1 · 3 · 7 · 15 · 16 · 17 · 21 · 22 · A · B · C · D · E · F · G · H · I · J · K · L · M · N · O · P · R · S · T · U · V · W · X · Y · Z
1
- 1p36 Deletion Syndrome
Agatino Battaglia.
Initial Posting: February 1, 2008; Last Update: June 6, 2013.
- 1q21.1 Recurrent Microdeletion
Chad R Haldeman-Englert and Tamison Jewett.
Initial Posting: February 24, 2011; Last Update: November 12, 2015.
3
- 3-M Syndrome
Muriel Holder-Espinasse.
Initial Posting: March 25, 2002; Last Update: January 26, 2012.
- 3q29 Recurrent Deletion
Jennifer Gladys Mulle, Michael J Gambello, Edwin H Cook, Timothy P Rutkowski, and Megan Glassford.
Initial Posting: September 22, 2016; Last Revision: October 19, 2017.
7
- 7q11.23 Duplication Syndrome
Carolyn B Mervis, Colleen A Morris, Bonita P Klein-Tasman, Shelley L Velleman, and Lucy R Osborne.
Initial Posting: November 25, 2015.
15
- 15q Duplication Syndrome and Related Disorders
Brenda M Finucane, Laina Lusk, Dimitrios Arkilo, Stormy Chamberlain, Orrin Devinsky, Scott Dindot, Shafali Spurling Jeste, Janine M LaSalle, Lawrence T Reiter, N Carolyn Schanen, Sarah J Spence, Ronald L Thibert, Guy Calvert, Kadi Luchsinger, and Edwin H Cook.
Initial Posting: June 16, 2016.
- 15q13.3 Microdeletion
Bregje WM van Bon, Heather C Mefford, and Bert BA de Vries.
Initial Posting: December 23, 2010; Last Update: July 23, 2015.
- 15q24 Microdeletion Syndrome
Heather Mefford, Natasha Shur, and Jill Rosenfeld.
Initial Posting: February 23, 2012.
16
- 16p11.2 Recurrent Microdeletion
David T Miller, Wendy Chung, Ramzi Nasir, Yiping Shen, Kyle J Steinman, Bai-Lin Wu, and Ellen Hanson.
Initial Posting: September 22, 2009; Last Update: December 10, 2015.
- 16p12.2 Recurrent Deletion
Santhosh Girirajan, Lucilla Pizzo, John Moeschler, and Jill Rosenfeld.
Initial Posting: February 26, 2015; Last Update: September 13, 2018.
17
- 17q12 Recurrent Duplication
Heather Mefford, Elyse Mitchell, and Jennelle Hodge.
Initial Posting: February 25, 2016.
- 17q12 Recurrent Deletion Syndrome
Marissa W Mitchel, Daniel Moreno-De-Luca, Scott M Myers, Brenda Finucane, David H Ledbetter, and Christa L Martin.
Initial Posting: December 8, 2016.
21
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Saroj Nimkarn, Prasanna K Gangishetti, Mabel Yau, and Maria I New.
Initial Posting: February 26, 2002; Last Update: February 4, 2016.
22
- 22q11.2 Deletion Syndrome
Donna M McDonald-McGinn, Beverly S Emanuel, and Elaine H Zackai.
Initial Posting: September 23, 1999; Last Update: February 28, 2013.
- 22q11.2 Duplication
Helen V Firth.
Initial Posting: February 17, 2009; Last Update: November 21, 2013.
A
- ACTG2-Related Disorders
Michael F Wangler and Arthur L Beaudet.
Initial Posting: June 11, 2015.
- ADAMTSL4-Related Eye Disorders
Eyvind Rødahl, Anne Elisabeth Christensen Mellgren, Torunn Fiskerstrand, Per Morten Knappskog, and Helge Boman.
Initial Posting: February 16, 2012; Last Update: July 5, 2018.
- ADCY5-Related Dyskinesia
Chris Shaw, Fuki Hisama, Jennifer Friedman, and Thomas D Bird.
Initial Posting: December 18, 2014; Last Revision: December 17, 2015.
- ADNP-Related Intellectual Disability and Autism Spectrum Disorder
Anke Van Dijck, Céline Helsmoortel, Geert Vandeweyer, and Frank Kooy.
Initial Posting: April 7, 2016.
- AIP-Related Familial Isolated Pituitary Adenomas
Márta Korbonits and Ajith V Kumar.
Initial Posting: June 21, 2012.
- ALK-Related Neuroblastic Tumor Susceptibility
Emily G Greengard and Julie R Park.
Initial Posting: January 5, 2010; Last Update: April 9, 2015.
- ALS2-Related Disorders
Richard W Orrell.
Initial Posting: October 21, 2005; Last Update: January 28, 2016.
- ANKRD26-Related Thrombocytopenia
Juliana Perez Botero, Stefanie N Dugan, and Matthew W Anderson.
Initial Posting: June 21, 2018.
- ANO5-Related Muscle Diseases
Sini Penttilä, Johanna Palmio, and Bjarne Udd.
Initial Posting: November 29, 2012.
- AP-4-Associated Hereditary Spastic Paraplegia
Darius Ebrahimi-Fakhari, Robert Behne, Alexandra K Davies, and Jennifer Hirst.
Initial Posting: December 13, 2018.
- APC-Associated Polyposis Conditions
Kory W Jasperson, Swati G Patel, and Dennis J Ahnen.
Initial Posting: December 18, 1998; Last Update: February 2, 2017.
- APOE p.Leu167del-Related Lipid Disorders
Nicole Greyshock, John R Guyton, Siby Sebastian, and Daniel Okorodudu.
Initial Posting: June 12, 2014.
- ARSACS
Sascha Vermeer, Bart P van de Warrenburg, and Erik-Jan Kamsteeg.
Initial Posting: December 9, 2003; Last Update: October 11, 2012.
- ASAH1-Related Disorders
David A Dyment, Steffany AL Bennett, Jeffrey A Medin, and Thierry Levade.
Initial Posting: March 29, 2018.
- ATP1A3-Related Neurologic Disorders
Allison Brashear, Kathleen J Sweadner, Jared F Cook, Kathryn J Swoboda, and Laurie Ozelius.
Initial Posting: February 7, 2008; Last Update: February 22, 2018.
- ATP6V0A2-Related Cutis Laxa
Lionel Van Maldergem, William Dobyns, and Uwe Kornak.
Initial Posting: March 19, 2009; Last Update: February 12, 2015.
- ATP7A-Related Copper Transport Disorders
Stephen G Kaler.
Initial Posting: May 9, 2003; Last Update: August 18, 2016.
- ATP8B1 Deficiency
AS Knisely, Laura N Bull, and Benjamin L Shneider.
Initial Posting: October 15, 2001; Last Update: March 20, 2014.
- Abetalipoproteinemia
John R Burnett, Amanda J Hooper, and Robert A Hegele.
Initial Posting: October 25, 2018.
- Aceruloplasminemia
Hiroaki Miyajima and Yasushi Hosoi.
Initial Posting: August 12, 2003; Last Update: September 27, 2018.
- Achondrogenesis Type 1B
Luisa Bonafé, Lauréane Mittaz-Crettol, Diana Ballhausen, and Andrea Superti-Furga.
Initial Posting: August 30, 2002; Last Update: November 14, 2013.
- Achondroplasia
Richard M Pauli and Janet M Legare.
Initial Posting: October 12, 1998; Last Update: May 10, 2018.
- Achromatopsia
Susanne Kohl, Herbert Jägle, Bernd Wissinger, and Ditta Zobor.
Initial Posting: June 24, 2004; Last Update: September 20, 2018.
- Acid Sphingomyelinase Deficiency
Melissa P Wasserstein and Edward H Schuchman.
Initial Posting: December 7, 2006; Last Update: June 18, 2015.
- Action Myoclonus – Renal Failure Syndrome
Dina Amrom, Frederick Andermann, and Eva Andermann.
Initial Posting: December 17, 2015.
- Acute Intermittent Porphyria
Sharon D Whatley and Michael N Badminton.
Initial Posting: September 27, 2005; Last Update: February 7, 2013.
- Adams-Oliver Syndrome
Anna Lehman, Wim Wuyts, and Millan S Patel.
Initial Posting: April 14, 2016.
- Adenine Phosphoribosyltransferase Deficiency
Vidar Orn Edvardsson, Runolfur Palsson, and Amrik Sahota.
Initial Posting: August 30, 2012; Last Update: June 18, 2015.
- Adenosine Deaminase Deficiency
Michael Hershfield.
Initial Posting: October 3, 2006; Last Update: March 16, 2017.
- Adult Polyglucosan Body Disease
Christopher J Klein.
Initial Posting: April 2, 2009; Last Update: December 19, 2013.
- Aicardi Syndrome
V Reid Sutton and Ignatia B Van den Veyver.
Initial Posting: June 30, 2006; Last Update: November 6, 2014.
- Aicardi-Goutières Syndrome
Yanick J Crow.
Initial Posting: June 29, 2005; Last Update: November 22, 2016.
- Alagille Syndrome
Nancy B Spinner, Laura D Leonard, and Ian D Krantz.
Initial Posting: May 19, 2000; Last Update: February 28, 2013.
- Alexander Disease
Siddharth Srivastava and Sakkubai Naidu.
Initial Posting: November 15, 2002; Last Update: January 8, 2015.
- Alkaptonuria
Wendy J Introne and William A Gahl.
Initial Posting: May 9, 2003; Last Update: May 12, 2016.
- Alpha-Mannosidosis
Dag Malm and Øivind Nilssen.
Initial Posting: October 11, 2001; Last Update: May 3, 2012.
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
Roger E Stevenson.
Initial Posting: June 19, 2000; Last Update: November 6, 2014.
- Alpha-Thalassemia
Raffaella Origa and Paolo Moi.
Initial Posting: November 1, 2005; Last Update: December 29, 2016.
- Alpha-1 Antitrypsin Deficiency
James K Stoller, Felicitas L Lacbawan, and Loutfi S Aboussouan.
Initial Posting: October 27, 2006; Last Revision: January 19, 2017.
- Alport Syndrome and Thin Basement Membrane Nephropathy
Clifford E Kashtan.
Initial Posting: August 28, 2001; Last Update: November 25, 2015.
- Alström Syndrome
Richard B Paisey, Catherine Carey, and Seamus Macdermott.
Initial Posting: February 7, 2003; Last Update: May 31, 2012.
- Alzheimer Disease Overview
Thomas D Bird.
Initial Posting: October 23, 1998; Last Update: December 20, 2018.
- Amish Lethal Microcephaly
Leslie G Biesecker.
Initial Posting: September 4, 2003; Last Update: December 7, 2017.
- Amyotrophic Lateral Sclerosis Overview
Lisa Kinsley and Teepu Siddique.
Initial Posting: March 23, 2001; Last Revision: February 12, 2015.
- Andersen-Tawil Syndrome
Aravindhan Veerapandiyan, Jeffrey M Statland, and Rabi Tawil.
Initial Posting: November 22, 2004; Last Update: June 7, 2018.
- Androgen Insensitivity Syndrome
Bruce Gottlieb and Mark A Trifiro.
Initial Posting: March 24, 1999; Last Update: May 11, 2017.
- Angelman Syndrome
Aditi I Dagli, Jennifer Mueller, and Charles A Williams.
Initial Posting: September 15, 1998; Last Revision: December 21, 2017.
- Arginase Deficiency
Derek Wong, Stephen Cederbaum, and Eric A Crombez.
Initial Posting: October 21, 2004; Last Update: August 28, 2014.
- Argininosuccinate Lyase Deficiency
Sandesh C Sreenath Nagamani, Ayelet Erez, and Brendan Lee.
Initial Posting: February 3, 2011; Last Revision: February 2, 2012.
- Arrhythmogenic Right Ventricular Cardiomyopathy
Elizabeth McNally, Heather MacLeod, and Lisa Dellefave-Castillo.
Initial Posting: April 18, 2005; Last Update: May 25, 2017.
- Arterial Tortuosity Syndrome
Bert Callewaert, Anne De Paepe, and Paul Coucke.
Initial Posting: November 13, 2014.
- Arts Syndrome
Arjan PM de Brouwer and John Christodoulou.
Initial Posting: October 21, 2008; Last Update: March 22, 2018.
- Arylsulfatase A Deficiency
Natalia Gomez-Ospina.
Initial Posting: May 30, 2006; Last Update: December 14, 2017.
- Asparagine Synthetase Deficiency
Majid Alfadhel and Ayman W El-Hattab.
Initial Posting: September 20, 2018.
- Ataxia with Oculomotor Apraxia Type 1
Paula Coutinho and Clara Barbot.
Initial Posting: June 11, 2002; Last Update: March 19, 2015.
- Ataxia with Oculomotor Apraxia Type 2
Maria-Ceu Moreira and Michel Koenig.
Initial Posting: November 15, 2004; Last Update: July 12, 2018.
- Ataxia with Vitamin E Deficiency
Markus Schuelke.
Initial Posting: May 20, 2005; Last Update: October 13, 2016.
- Ataxia-Telangiectasia
Richard Gatti and Susan Perlman.
Initial Posting: March 19, 1999; Last Update: October 27, 2016.
- Atelosteogenesis Type 2
Luisa Bonafé, Lauréane Mittaz-Crettol, Diana Ballhausen, and Andrea Superti-Furga.
Initial Posting: August 30, 2002; Last Update: January 23, 2014.
- Autoimmune Lymphoproliferative Syndrome
Jack JH Bleesing, Chinmayee B Nagaraj, and Kejian Zhang.
Initial Posting: September 14, 2006; Last Update: August 24, 2017.
- Autosomal Dominant Hyper IgE Syndrome
Amy P Hsu, Joie Davis, Jennifer M Puck, Steven M Holland, and Alexandra F Freeman.
Initial Posting: February 23, 2010; Last Update: June 7, 2012.
- Autosomal Dominant Leukodystrophy with Autonomic Disease
Norah Nahhas, Parisa Sabet Rasekh, Adeline Vanderver, and Quasar Padiath.
Initial Posting: January 7, 2016.
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hirokazu Kurahashi and Shinichi Hirose.
Initial Posting: May 16, 2002; Last Update: March 15, 2018.
- Autosomal Dominant Partial Epilepsy with Auditory Features
Ruth Ottman.
Initial Posting: April 20, 2007; Last Update: August 27, 2015.
- Autosomal Dominant Robinow Syndrome
Maian Roifman, Han Brunner, Jamie Lohr, Juliana Mazzeu, and David Chitayat.
Initial Posting: January 8, 2015; Last Update: August 9, 2018.
- Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related
Anthony J Bleyer and Stanislav Kmoch.
Initial Posting: August 15, 2013; Last Update: June 30, 2016.
- Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related
Stanislav Kmoch, Martina Živná, and Anthony J Bleyer.
Initial Posting: April 5, 2011; Last Update: December 29, 2015.
- Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related
Anthony J Bleyer, P Suzanne Hart, and Stanislav Kmoch.
Initial Posting: January 12, 2007; Last Update: June 30, 2016.
- Autosomal Recessive Congenital Ichthyosis
Gabriele Richard.
Initial Posting: January 10, 2001; Last Update: May 18, 2017.
B
- BAP1 Tumor Predisposition Syndrome
Robert Pilarski, Karan Rai, Colleen Cebulla, and Mohamed Abdel-Rahman.
Initial Posting: October 13, 2016.
- BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
Nancie Petrucelli, Mary B Daly, and Tuya Pal.
Initial Posting: September 4, 1998; Last Update: December 15, 2016.
- BSCL2-Related Neurologic Disorders/Seipinopathy
Daisuke Ito.
Initial Posting: December 6, 2005; Last Update: May 24, 2018.
- Baller-Gerold Syndrome
Lionel Van Maldergem, Juliette Piard, Lidia Larizza, and Lisa L Wang.
Initial Posting: August 13, 2007; Last Update: April 19, 2018.
- Baraitser-Winter Cerebrofrontofacial Syndrome
Alain Verloes, Séverine Drunat, Daniela Pilz, and Nataliya Di Donato.
Initial Posting: November 19, 2015.
- Bardet-Biedl Syndrome
Elizabeth Forsythe and Philip L Beales.
Initial Posting: July 14, 2003; Last Revision: April 23, 2015.
- Barth Syndrome
Carlos Ferreira, Reid Thompson, and Hilary Vernon.
Initial Posting: October 9, 2014.
- Beckwith-Wiedemann Syndrome
Cheryl Shuman, J Bruce Beckwith, and Rosanna Weksberg.
Initial Posting: March 3, 2000; Last Update: August 11, 2016.
- Berardinelli-Seip Congenital Lipodystrophy
Lionel Van Maldergem.
Initial Posting: September 8, 2003; Last Update: December 8, 2016.
- Best Vitelliform Macular Dystrophy
Ian M MacDonald and Thomas Lee.
Initial Posting: September 30, 2003; Last Update: December 12, 2013.
- Beta-Propeller Protein-Associated Neurodegeneration
Allison Gregory, Manju A Kurian, Tobias Haack, Susan J Hayflick, and Penelope Hogarth.
Initial Posting: February 16, 2017.
- Beta-Thalassemia
Raffaella Origa.
Initial Posting: September 28, 2000; Last Update: January 25, 2018.
- Bietti Crystalline Dystrophy
Krystle A Okialda, Niamh B Stover, Richard G Weleber, and Edward J Kelly.
Initial Posting: April 12, 2012; Last Revision: June 14, 2012.
- Biotinidase Deficiency
Barry Wolf.
Initial Posting: March 24, 2000; Last Update: June 9, 2016.
- Biotin-Thiamine-Responsive Basal Ganglia Disease
Brahim Tabarki, Amal Al-Hashem, and Majid Alfadhel.
Initial Posting: November 21, 2013.
- Birt-Hogg-Dubé Syndrome
Jorge R Toro.
Initial Posting: February 27, 2006; Last Update: August 7, 2014.
- Blepharophimosis, Ptosis, and Epicanthus Inversus
Hannah Verdin and Elfride De Baere.
Initial Posting: July 8, 2004; Last Update: February 5, 2015.
- Bloom's Syndrome
Maureen M Sanz, James German, and Christopher Cunniff.
Initial Posting: March 22, 2006; Last Update: April 7, 2016.
- Bohring-Opitz Syndrome
Bianca Russell, Wen-Hann Tan, and John M Graham, Jr.
Initial Posting: February 15, 2018.
- Branchiooculofacial Syndrome
Angela E Lin, Chad R Haldeman-Englert, and Jeff M Milunsky.
Initial Posting: May 31, 2011; Last Update: March 29, 2018.
- Branchiootorenal Spectrum Disorder
Richard JH Smith.
Initial Posting: March 19, 1999; Last Update: September 6, 2018.
- Brugada Syndrome
Ramon Brugada, Oscar Campuzano, Georgia Sarquella-Brugada, Pedro Brugada, Josep Brugada, and Kui Hong.
Initial Posting: March 31, 2005; Last Update: November 17, 2016.
- Burn-McKeown Syndrome
Hermann-Josef Lüdecke and Dagmar Wieczorek.
Initial Posting: July 14, 2016.
C
- C3 Glomerulopathy
Bertha Martín and Richard JH Smith.
Initial Posting: July 20, 2007; Last Update: April 5, 2018.
- C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Marc Cruts, Sebastiaan Engelborghs, Julie van der Zee, and Christine Van Broeckhoven.
Initial Posting: January 8, 2015.
- CADASIL
Julie Rutten and Saskia AJ Lesnik Oberstein.
Initial Posting: March 15, 2000; Last Revision: July 14, 2016.
- CARASIL
Osamu Onodera, Hiroaki Nozaki, and Toshio Fukutake.
Initial Posting: April 27, 2010; Last Update: September 11, 2014.
- CASK-Related Disorders
Ute Moog, Gökhan Uyanik, and Kerstin Kutsche.
Initial Posting: November 26, 2013.
- CATSPER-Related Male Infertility
Michael S Hildebrand, Matthew R Avenarius, and Richard JH Smith.
Initial Posting: December 3, 2009; Last Update: March 23, 2017.
- CDC73-Related Disorders
Samuel M Hyde, Thereasa A Rich, Steven G Waguespack, Nancy D Perrier, and Mimi I Hu.
Initial Posting: December 31, 2008; Last Update: April 26, 2018.
- CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
Kiran Tawana and Jude Fitzgibbon.
Initial Posting: October 21, 2010; Last Update: April 28, 2016.
- CHARGE Syndrome
Seema R Lalani, Margaret A Hefner, John W Belmont, and Sandra LH Davenport.
Initial Posting: October 2, 2006; Last Update: February 2, 2012.
- CHCHD10-Related Disorders
Samira Ait-El-Mkadem, Annabelle Chaussenot, Sylvie Bannwarth, Cécile Rouzier, and Véronique Paquis-Flucklinger.
Initial Posting: July 1, 2015.
- CHD2-Related Neurodevelopmental Disorders
Gemma Carvill, Ingo Helbig, and Heather Mefford.
Initial Posting: December 10, 2015.
- CHST3-Related Skeletal Dysplasia
Andrea Superti-Furga and Sheila Unger.
Initial Posting: September 1, 2011.
- CLCN2-Related Leukoencephalopathy
Marjo S van der Knaap, Christel Depienne, Frederic Sedel, and Truus EM Abbink.
Initial Posting: November 5, 2015.
- CLCN7-Related Osteopetrosis
Cristina Sobacchi, Anna Villa, Ansgar Schulz, and Uwe Kornak.
Initial Posting: February 12, 2007; Last Update: June 9, 2016.
- CLPB Deficiency
Saskia B Wortmann, Ron A Wevers, and Arjan PM de Brouwer.
Initial Posting: November 22, 2016.
- COL1A1/2-Related Osteogenesis Imperfecta
Robert D Steiner, Jessica Adsit, and Donald Basel.
Initial Posting: January 28, 2005; Last Update: February 14, 2013.
- COL4A1-Related Disorders
Emmanuelle Plaisier and Pierre Ronco.
Initial Posting: June 25, 2009; Last Update: July 7, 2016.
- CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
Christina Sundal and Zbigniew K Wszolek.
Initial Posting: August 30, 2012; Last Update: October 5, 2017.
- Caffey Disease
Andrea Guerin, Lucie Dupuis, and Roberto Mendoza-Londono.
Initial Posting: August 2, 2012; Last Revision: November 29, 2012.
- Calpainopathy
Corrado Angelini and Marina Fanin.
Initial Posting: May 10, 2005; Last Update: August 3, 2017.
- Campomelic Dysplasia
Sheila Unger, Gerd Scherer, and Andrea Superti-Furga.
Initial Posting: July 31, 2008; Last Update: May 9, 2013.
- Camurati-Engelmann Disease
Stephanie E Wallace and William R Wilcox.
Initial Posting: June 25, 2004; Last Update: October 12, 2017.
- Canavan Disease
Reuben Matalon, Lisvania Delgado, and Kimberlee Michals-Matalon.
Initial Posting: September 16, 1999; Last Update: September 13, 2018.
- Cantú Syndrome and Related Disorders
Dorothy K Grange, Colin G Nichols, and Gautam K Singh.
Initial Posting: October 2, 2014.
- Carbonic Anhydrase VA Deficiency
Clara van Karnebeek and Johannes Häberle.
Initial Posting: April 2, 2015.
- Cardiofaciocutaneous Syndrome
Katherine A Rauen.
Initial Posting: January 18, 2007; Last Update: March 3, 2016.
- Carney Complex
Constantine A Stratakis and Margarita Raygada.
Initial Posting: February 5, 2003; Last Update: August 16, 2018.
- Carnitine Palmitoyltransferase 1A Deficiency
Michael J Bennett and Avni B Santani.
Initial Posting: July 27, 2005; Last Update: March 17, 2016.
- Carnitine Palmitoyltransferase II Deficiency
Thomas Wieser.
Initial Posting: August 27, 2004; Last Revision: January 3, 2019.
- Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
Outi Mäkitie and Svetlana Vakkilainen.
Initial Posting: March 15, 2012; Last Update: May 24, 2018.
- Catecholaminergic Polymorphic Ventricular Tachycardia
Carlo Napolitano, Silvia G Priori, and Raffaella Bloise.
Initial Posting: October 14, 2004; Last Update: October 13, 2016.
- Caveolinopathies
Claudio Bruno, Federica Sotgia, Elisabetta Gazzerro, Carlo Minetti, and Michael P Lisanti.
Initial Posting: May 14, 2007; Last Update: September 6, 2012.
- Celiac Disease
Annette K Taylor, Benjamin Lebwohl, Cara L Snyder, and Peter HR Green.
Initial Posting: July 3, 2008; Last Update: September 17, 2015.
- Central Core Disease
May Christine V Malicdan and Ichizo Nishino.
Initial Posting: May 16, 2007; Last Update: December 4, 2014.
- Cerebral Cavernous Malformation, Familial
Leslie Morrison and Amy Akers.
Initial Posting: February 24, 2003; Last Update: August 4, 2016.
- Cerebrotendinous Xanthomatosis
Antonio Federico, Maria Teresa Dotti, and Gian Nicola Gallus.
Initial Posting: July 16, 2003; Last Update: April 14, 2016.
- Char Syndrome
Bruce D Gelb.
Initial Posting: August 15, 2003; Last Update: January 24, 2013.
- Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview
Thomas D Bird.
Initial Posting: September 28, 1998; Last Update: June 28, 2018.
- Charcot-Marie-Tooth Neuropathy Type 2A
Stephan Züchner.
Initial Posting: February 18, 2005; Last Update: August 1, 2013.
- Charcot-Marie-Tooth Neuropathy Type 2E/1F
Peter De Jonghe and Albena K Jordanova.
Initial Posting: April 1, 2004; Last Update: October 27, 2011.
- Charcot-Marie-Tooth Neuropathy Type 4C
Hamid Azzedine, Eric LeGuern, and Mustafa A Salih.
Initial Posting: March 31, 2008; Last Update: October 15, 2015.
- Charcot-Marie-Tooth Neuropathy Type 4H
Valérie Delague.
Initial Posting: August 8, 2013.
- Charcot-Marie-Tooth Neuropathy Type 4J
Jun Li.
Initial Posting: November 14, 2013.
- Charcot-Marie-Tooth Neuropathy X Type 1
Thomas D Bird.
Initial Posting: June 18, 1998; Last Revision: September 1, 2016.
- Charcot-Marie-Tooth Neuropathy X Type 5
Jong-Won Kim and Hee-Jin Kim.
Initial Posting: August 26, 2008; Last Update: June 6, 2013.
- Chediak-Higashi Syndrome
Camilo Toro, Elena-Raluca Nicoli, May Christine Malicdan, David R Adams, and Wendy J Introne.
Initial Posting: March 3, 2009; Last Update: July 5, 2018.
- Cherubism
Peter Kannu, Berivan Baskin, and Sarah Bowdin.
Initial Posting: February 26, 2007; Last Update: November 21, 2018.
- Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Raphael Schiffmann, Anne Fogli, Marjo S van der Knaap, and Odile Boespflug-Tanguy.
Initial Posting: February 20, 2003; Last Revision: August 9, 2012.
- Chondrodysplasia Punctata 1, X-Linked
Nancy E Braverman, Michael Bober, Nicola Brunetti-Pierri, and Gretchen L Oswald.
Initial Posting: April 22, 2008; Last Update: November 20, 2014.
- Chondrodysplasia Punctata 2, X-Linked
Melissa A Dempsey, Christopher Tan, and Gail E Herman.
Initial Posting: May 31, 2011.
- Chorea-Acanthocytosis
Antonio Velayos Baeza, Carol Dobson-Stone, Luca Rampoldi, Benedikt Bader, Ruth H Walker, Adrian Danek, and Anthony P Monaco.
Initial Posting: June 14, 2002; Last Update: January 30, 2014.
- Choroideremia
Ian M MacDonald, Stacey Hume, Stephanie Chan, and Miguel C Seabra.
Initial Posting: February 21, 2003; Last Update: February 26, 2015.
- Christianson Syndrome
Eric M Morrow and Matthew F Pescosolido.
Initial Posting: January 11, 2018.
- Chronic Granulomatous Disease
Jennifer W Leiding and Steven M Holland.
Initial Posting: August 9, 2012; Last Update: February 11, 2016.
- Citrin Deficiency
Takeyori Saheki and Yuan-Zong Song.
Initial Posting: September 16, 2005; Last Update: August 10, 2017.
- Citrullinemia Type I
Shane C Quinonez and Jess G Thoene.
Initial Posting: July 7, 2004; Last Update: September 1, 2016.
- Classic Ehlers-Danlos Syndrome
Fransiska Malfait, Richard Wenstrup, and Anne De Paepe.
Initial Posting: May 29, 2007; Last Update: July 26, 2018.
- Classic Galactosemia and Clinical Variant Galactosemia
Gerard T Berry.
Initial Posting: February 4, 2000; Last Update: March 9, 2017.
- Cleidocranial Dysplasia Spectrum Disorder
Keren Machol, Roberto Mendoza-Londono, and Brendan Lee.
Initial Posting: January 3, 2006; Last Update: November 16, 2017.
- Cockayne Syndrome
Vincent Laugel.
Initial Posting: December 28, 2000; Last Update: June 14, 2012.
- Coffin-Lowry Syndrome
R Curtis Rogers and Fatima E Abidi.
Initial Posting: July 16, 2002; Last Update: February 1, 2018.
- Coffin-Siris Syndrome
Samantha Schrier Vergano, Gijs Santen, Dagmar Wieczorek, Bernd Wollnik, Naomichi Matsumoto, and Matthew A Deardorff.
Initial Posting: April 4, 2013; Last Revision: February 8, 2018.
- Cohen Syndrome
Heng Wang, Marni J Falk, Christine Wensel, and Elias I Traboulsi.
Initial Posting: August 29, 2006; Last Update: July 21, 2016.
- Cold-Induced Sweating Syndrome Including Crisponi Syndrome
Angelika F Hahn and Helge Boman.
Initial Posting: March 3, 2011; Last Update: March 17, 2016.
- Collagen Type VI-Related Disorders
Anne Katrin Lampe, Kevin M Flanigan, Katharine Mary Bushby, and Debbie Hicks.
Initial Posting: June 25, 2004; Last Update: August 9, 2012.
- Complete Plasminogen Activator Inhibitor 1 Deficiency
Meadow Heiman, Sweta Gupta, Sadiya S Khan, Douglas E Vaughan, and Amy D Shapiro.
Initial Posting: August 3, 2017.
- Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Luba Kalaydjieva and Teodora Chamova.
Initial Posting: March 2, 2010; Last Update: April 6, 2017.
- Congenital Central Hypoventilation Syndrome
Debra E Weese-Mayer, Mary L Marazita, Casey M Rand, and Elizabeth M Berry-Kravis.
Initial Posting: January 28, 2004; Last Update: January 30, 2014.
- Congenital Contractural Arachnodactyly
Maurice Godfrey.
Initial Posting: January 23, 2001; Last Update: February 23, 2012.
- Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
Jessica Ordonez and Mustafa Tekin.
Initial Posting: September 20, 2012.
- Congenital Diaphragmatic Hernia Overview
Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman.
Initial Posting: February 1, 2006; Last Update: March 16, 2010.
- Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
Susan E Sparks and Donna M Krasnewich.
Initial Posting: August 15, 2005; Last Update: January 12, 2017.
- Congenital Dyserythropoietic Anemia Type I
Hannah Tamary and Orly Dgany.
Initial Posting: April 21, 2009; Last Update: August 25, 2016.
- Congenital Erythropoietic Porphyria
Angelika Erwin, Manisha Balwani, Robert J Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
Initial Posting: September 12, 2013; Last Update: April 7, 2016.
- Congenital Fiber-Type Disproportion
Elizabeth Taylor DeChene, Peter B Kang, and Alan H Beggs.
Initial Posting: January 12, 2007; Last Update: April 11, 2013.
- Congenital Fibrosis of the Extraocular Muscles
Mary Whitman, David G Hunter, and Elizabeth C Engle.
Initial Posting: April 27, 2004; Last Update: January 14, 2016.
- Congenital Hepatic Fibrosis Overview
Meral Gunay-Aygun, William A Gahl, and Theo Heller.
Initial Posting: December 9, 2008; Last Update: April 24, 2014.
- Congenital Insensitivity to Pain Overview
Katherine Schon, Alasdair Parker, and Christopher Geoffrey Woods.
Initial Posting: February 8, 2018.
- Congenital Insensitivity to Pain with Anhidrosis
Yasuhiro Indo.
Initial Posting: August 5, 2008; Last Update: April 17, 2014.
- Congenital Mirror Movements
Aurélie Méneret, Oriane Trouillard, Christel Depienne, and Emmanuel Roze.
Initial Posting: March 12, 2015.
- Congenital Myasthenic Syndromes
Angela Abicht, Juliane Müller, S, and Hanns Lochmüller.
Initial Posting: May 9, 2003; Last Update: July 14, 2016.
- Congenital Stromal Corneal Dystrophy
Eyvind Rødahl, Per M Knappskog, Cecilie Bredrup, and Helge Boman.
Initial Posting: November 25, 2008; Last Update: November 29, 2018.
- Cornelia de Lange Syndrome
Matthew A Deardorff, Sarah E Noon, and Ian D Krantz.
Initial Posting: September 16, 2005; Last Update: January 28, 2016.
- Costello Syndrome
Karen W Gripp and Angela E Lin.
Initial Posting: August 29, 2006; Last Update: January 12, 2012.
- Cranioectodermal Dysplasia
Heleen Arts and Nine Knoers.
Initial Posting: September 12, 2013; Last Revision: April 12, 2018.
- Craniofacial Microsomia Overview
Carrie L Heike, Daniela V Luquetti, and Anne V Hing.
Initial Posting: March 19, 2009; Last Update: October 9, 2014.
- Craniometaphyseal Dysplasia, Autosomal Dominant
Ernst Reichenberger and I-Ping Chen.
Initial Posting: August 27, 2007; Last Update: January 15, 2015.
- Creatine Deficiency Syndromes
Saadet Mercimek-Mahmutoglu and Gajja S Salomons.
Initial Posting: January 15, 2009; Last Update: December 10, 2015.
- Cystic Fibrosis and Congenital Absence of the Vas Deferens
Thida Ong, Susan G Marshall, Barbara A Karczeski, Darci L Sternen, Edith Cheng, and Garry R Cutting.
Initial Posting: March 26, 2001; Last Update: February 2, 2017.
- Cystinosis
Galina Nesterova and William A Gahl.
Initial Posting: March 22, 2001; Last Revision: December 7, 2017.
- Cytochrome P450 Oxidoreductase Deficiency
Jan Idkowiak, Deborah Cragun, Robert J Hopkin, and Wiebke Arlt.
Initial Posting: September 8, 2005; Last Update: August 3, 2017.
D
- DCX-Related Disorders
Ute Hehr, Gökhan Uyanik, Ludwig Aigner, Sebastien Couillard-Despres, and Jürgen Winkler.
Initial Posting: October 19, 2007; Last Update: March 24, 2011.
- DEPDC5-Related Epilepsy
Stéphanie Baulac and Sarah Weckhuysen.
Initial Posting: September 29, 2016.
- DFNA2 Nonsyndromic Hearing Loss
Richard JH Smith and Michael Hildebrand.
Initial Posting: April 4, 2008; Last Update: May 10, 2018.
- DFNX1 Nonsyndromic Hearing Loss and Deafness
Xue Z Liu, Huijun Yuan, Rahul Mittal, and Denise Yan.
Initial Posting: August 4, 2011; Last Update: July 19, 2018.
-
DICER1-Related Disorders
Leslie Doros, Kris Ann Schultz, Douglas R Stewart, Andrew J Bauer, Gretchen Williams, Christopher T Rossi, Ann Carr, Jiandong Yang, Louis P Dehner, Yoav Messinger, and D Ashley Hill.
Initial Posting: April 24, 2014.
- DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy
Stephan Züchner and Feifei Tao.
Initial Posting: July 8, 2010; Last Update: June 25, 2015.
- DNMT1-Related Dementia, Deafness, and Sensory Neuropathy
Christopher J Klein.
Initial Posting: February 16, 2012; Last Revision: May 17, 2012.
- DRPLA
Liana Veneziano and Marina Frontali.
Initial Posting: August 6, 1999; Last Update: June 9, 2016.
- DYRK1A-Related Intellectual Disability Syndrome
Bregje WM van Bon, Bradley P Coe, Bert BA de Vries, and Evan E Eichler.
Initial Posting: December 17, 2015.
- DYT-GNAL
Angela B Deutschländer and Zbigniew K Wszolek.
Initial Posting: January 3, 2019.
- DYT1 Early-Onset Isolated Dystonia
Laurie Ozelius and Naomi Lubarr.
Initial Posting: April 14, 1999; Last Update: November 17, 2016.
- Deafness and Myopia Syndrome
Jessica L Ordonez and Mustafa Tekin.
Initial Posting: January 15, 2015; Last Update: September 14, 2017.
- Deafness-Dystonia-Optic Neuronopathy Syndrome
Lisbeth Tranebjærg.
Initial Posting: February 6, 2003; Last Update: January 31, 2013.
- Dent Disease
John C Lieske, Dawn S Milliner, Lada Beara-Lasic, Peter Harris, Andrea Cogal, and Elizabeth Abrash.
Initial Posting: August 9, 2012; Last Update: December 14, 2017.
- Deoxyguanosine Kinase Deficiency
Ayman W El-Hattab, Fernando Scaglia, and Lee-Jun Wong.
Initial Posting: June 18, 2009; Last Update: December 22, 2016.
- Diabetes Mellitus, 6q24-Related Transient Neonatal
Isabel Karen Temple and Deborah JG Mackay.
Initial Posting: October 10, 2005; Last Update: September 13, 2018.
- Diamond-Blackfan Anemia
Catherine Clinton and Hanna T Gazda.
Initial Posting: June 25, 2009; Last Update: April 7, 2016.
- Diastrophic Dysplasia
Luisa Bonafé, Lauréane Mittaz-Crettol, Diana Ballhausen, and Andrea Superti-Furga.
Initial Posting: November 15, 2004; Last Update: July 18, 2013.
- Dihydrolipoamide Dehydrogenase Deficiency
Shane C Quinonez and Jess G Thoene.
Initial Posting: July 17, 2014.
- Dilated Cardiomyopathy Overview
Ray E Hershberger and Ana Morales.
Initial Posting: July 27, 2007; Last Update: August 23, 2018.
- Disorders of GNAS Inactivation
Chad R Haldeman-Englert, Anna CE Hurst, and Michael A Levine.
Initial Posting: October 26, 2017.
- Disorders of Intracellular Cobalamin Metabolism
Jennifer L Sloan, Nuria Carrillo, David Adams, and Charles P Venditti.
Initial Posting: February 25, 2008; Last Update: September 6, 2018.
- Donnai-Barrow Syndrome
Mauro Longoni, Sibel Kantarci, Dian Donnai, and Barbara R Pober.
Initial Posting: August 28, 2008; Last Update: November 21, 2018.
- Dopamine Beta-Hydroxylase Deficiency
David Robertson and Emily M Garland.
Initial Posting: September 4, 2003; Last Update: October 29, 2015.
- Duane Syndrome
Caroline V Andrews, David G Hunter, and Elizabeth C Engle.
Initial Posting: May 25, 2007; Last Update: March 19, 2015.
- Duarte Variant Galactosemia
Judith L Fridovich-Keil, Michael J Gambello, Rani H Singh, and J Daniel Sharer.
Initial Posting: December 4, 2014.
- Dysferlinopathy
Masashi Aoki.
Initial Posting: February 5, 2004; Last Update: March 5, 2015.
- Dyskeratosis Congenita
Sharon A Savage.
Initial Posting: November 12, 2009; Last Update: May 26, 2016.
- Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Karin Tuschl, Peter T Clayton, Sidney M Gospe, Jr, and Philippa B Mills.
Initial Posting: August 30, 2012; Last Update: February 9, 2017.
- Dystrophic Epidermolysis Bullosa
Ellen G Pfendner and Anne W Lucky.
Initial Posting: August 21, 2006; Last Update: September 13, 2018.
- Dystrophinopathies
Basil T Darras, David K Urion, and Partha S Ghosh.
Initial Posting: September 5, 2000; Last Update: April 26, 2018.
E
- EFEMP2-Related Cutis Laxa
Bart Loeys, Anne De Paepe, and Zsolt Urban.
Initial Posting: May 12, 2011; Last Update: July 23, 2015.
- ELANE-Related Neutropenia
David C Dale and Vahagn Makaryan.
Initial Posting: June 17, 2002; Last Update: August 23, 2018.
- EPB42-Related Hereditary Spherocytosis
Theodosia A Kalfa, Jessica A Connor, and Amber H Begtrup.
Initial Posting: March 13, 2014; Last Update: November 10, 2016.
- EXOSC3-Related Pontocerebellar Hypoplasia
Veerle RC Eggens, Peter G Barth, and Frank Baas.
Initial Posting: August 21, 2014.
- EZH2-Related Overgrowth
Katrina Tatton-Brown and Nazneen Rahman.
Initial Posting: July 18, 2013; Last Update: August 2, 2018.
- Emanuel Syndrome
Beverly S Emanuel, Elaine H Zackai, and Livija Medne.
Initial Posting: April 20, 2007; Last Update: August 31, 2017.
- Emery-Dreifuss Muscular Dystrophy
Gisèle Bonne, France Leturcq, and Rabah Ben Yaou.
Initial Posting: September 29, 2004; Last Update: November 25, 2015.
- Enlarged Parietal Foramina
Andrew OM Wilkie and Lampros A Mavrogiannis.
Initial Posting: March 30, 2004; Last Update: November 8, 2012.
- Epidermolysis Bullosa Simplex
Ellen G Pfendner and Anna L Bruckner.
Initial Posting: October 7, 1998; Last Update: October 13, 2016.
- Epidermolysis Bullosa with Pyloric Atresia
Ellen G Pfendner and Anne W Lucky.
Initial Posting: February 22, 2008; Last Update: September 7, 2017.
- Epimerase Deficiency Galactosemia
Judith Fridovich-Keil, Lora Bean, Miao He, and Richard Schroer.
Initial Posting: January 25, 2011; Last Update: June 16, 2016.
- Episodic Ataxia Type 1
Sonia M Hasan and Maria Cristina D'Adamo.
Initial Posting: February 9, 2010; Last Revision: November 1, 2018.
- Episodic Ataxia Type 2
Sian Spacey.
Initial Posting: February 24, 2003; Last Update: October 15, 2015.
- Erythropoietic Protoporphyria, Autosomal Recessive
Manisha Balwani, Joseph Bloomer, Robert Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
Initial Posting: September 27, 2012; Last Update: September 7, 2017.
- Esophageal Atresia/Tracheoesophageal Fistula Overview
Daryl A Scott.
Initial Posting: March 12, 2009; Last Update: September 20, 2018.
- Ethylmalonic Encephalopathy
Ivano Di Meo, Costanza Lamperti, and Valeria Tiranti.
Initial Posting: September 21, 2017.
F
- FBLN5-Related Cutis Laxa
Lionel Van Maldergem and Bart Loeys.
Initial Posting: March 19, 2009; Last Update: August 16, 2018.
- FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
Mohammed Almannai, Hongzheng Dai, Ayman W El-Hattab, and Lee-Jun C Wong.
Initial Posting: April 6, 2017.
- FGFR-Related Craniosynostosis Syndromes
Nathaniel H Robin, Marni J Falk, and Chad R Haldeman-Englert.
Initial Posting: October 20, 1998; Last Update: June 7, 2011.
- FLNA-Related Periventricular Nodular Heterotopia
Ming Hui Chen and Christopher A Walsh.
Initial Posting: October 8, 2002; Last Update: September 17, 2015.
- FLNB-Related Disorders
Stephen Robertson.
Initial Posting: October 9, 2008; Last Update: October 17, 2013.
- FOXP2-Related Speech and Language Disorders
Angela Morgan, Simon E Fisher, Ingrid Scheffer, and Michael Hildebrand.
Initial Posting: June 23, 2016; Last Revision: February 2, 2017.
- FMR1-Related Disorders
Robert A Saul and Jack C Tarleton.
Initial Posting: June 16, 1998; Last Revision: April 26, 2012.
- FRMD7-Related Infantile Nystagmus
Mervyn G Thomas, Gail Maconachie, Michael Hisaund, and Irene Gottlob.
Initial Posting: February 12, 2009; Last Update: August 16, 2018.
- Fabry Disease
Atul Mehta and Derralynn A Hughes.
Initial Posting: August 5, 2002; Last Update: January 5, 2017.
- Facioscapulohumeral Muscular Dystrophy
Richard JLF Lemmers, Daniel G Miller, and Silvere M van der Maarel.
Initial Posting: March 8, 1999; Last Revision: March 20, 2014.
- Factor V Leiden Thrombophilia
Jody L Kujovich.
Initial Posting: May 14, 1999; Last Update: January 4, 2018.
- Familial Dysautonomia
Mordechai Shohat and Monika Weisz Hubshman.
Initial Posting: January 21, 2003; Last Update: December 18, 2014.
- Familial Exudative Vitreoretinopathy, Autosomal Dominant
Carmel Toomes and Louise Downey.
Initial Posting: March 21, 2005; Last Revision: September 22, 2011.
- Familial Hemiplegic Migraine
Joanna C Jen.
Initial Posting: July 17, 2001; Last Update: May 14, 2015.
- Familial Hypercholesterolemia
Emily Youngblom, Mitchel Pariani, and Joshua W Knowles.
Initial Posting: January 2, 2014; Last Update: December 8, 2016.
- Familial Hyperinsulinism
Benjamin Glaser.
Initial Posting: August 19, 2003; Last Update: January 24, 2013.
- Familial Lipoprotein Lipase Deficiency
John R Burnett, Amanda J Hooper, and Robert A Hegele.
Initial Posting: October 12, 1999; Last Update: June 22, 2017.
- Familial Mediterranean Fever
Mordechai Shohat.
Initial Posting: August 8, 2000; Last Update: December 15, 2016.
- Familial Monosomy 7 Syndrome
Jennifer JD Morrissette, Gerald Wertheim, and Timothy Olson.
Initial Posting: July 8, 2010; Last Update: January 21, 2016.
- Familial Paroxysmal Nonkinesigenic Dyskinesia
Sian Spacey and Paul Adams.
Initial Posting: June 24, 2005; Last Update: May 3, 2011.
- Familial Porphyria Cutanea Tarda
Lawrence U Liu, John Phillips, Herbert Bonkovsky; Porphyrias Consortium of the Rare Diseases Clinical Research Network.
Initial Posting: June 6, 2013; Last Update: September 8, 2016.
- Fanconi Anemia
Parinda A Mehta and Jakub Tolar.
Initial Posting: February 14, 2002; Last Revision: March 8, 2018.
- Fatty Acid Hydroxylase-Associated Neurodegeneration
Allison Gregory, Sunita Venkateswaran, and Susan J Hayflick.
Initial Posting: June 28, 2011; Last Update: September 27, 2018.
- Feingold Syndrome 1
Carlo LM Marcelis and Arjan PM de Brouwer.
Initial Posting: June 30, 2009; Last Update: September 6, 2012.
- Fibrous Dysplasia/McCune-Albright Syndrome
Alison M Boyce, Pablo Florenzano, Luis F de Castro, and Michael T Collins.
Initial Posting: February 26, 2015; Last Update: August 16, 2018.
- Floating-Harbor Syndrome
Malgorzata JM Nowaczyk, Sarah M Nikkel, and Susan M White.
Initial Posting: November 29, 2012; Last Revision: January 24, 2013.
- Focal Dermal Hypoplasia
Bret Bostwick, Ignatia B Van den Veyver, and V Reid Sutton.
Initial Posting: May 15, 2008; Last Update: July 21, 2016.
- Free Sialic Acid Storage Disorders
David Adams and William A Gahl.
Initial Posting: June 13, 2003; Last Update: June 6, 2013.
- Friedreich Ataxia
Sanjay I Bidichandani and Martin B Delatycki.
Initial Posting: December 18, 1998; Last Update: June 1, 2017.
- Frontotemporal Dementia, Chromosome 3-Linked
Ida E Holm, Jørgen E Nielsen, Jeremy M Brown, Peter Johannsen, and Adrian M Isaacs.
Initial Posting: August 23, 2007; Last Update: October 4, 2012.
- Fryns Syndrome
Anne Slavotinek.
Initial Posting: April 18, 2007; Last Update: January 29, 2015.
- Fukuyama Congenital Muscular Dystrophy
Kayoko Saito.
Initial Posting: January 26, 2006; Last Update: May 10, 2012.
- Fumarate Hydratase Deficiency
Clifton Ewbank, John F Kerrigan, and Kirk Aleck.
Initial Posting: July 5, 2006; Last Update: April 4, 2013.
G
- G6PC3 Deficiency
Siddharth Banka.
Initial Posting: April 16, 2015.
- GARS-Associated Axonal Neuropathy
Anthony Antonellis, Lev G Goldfarb, and Kumaraswamy Sivakumar.
Initial Posting: November 8, 2006; Last Update: November 29, 2018.
- GATA1-Related X-Linked Cytopenia
Stella T Chou, Melissa A Kacena, Mitchell J Weiss, and Wendy H Raskind.
Initial Posting: November 22, 2006; Last Update: May 11, 2017.
- GDAP1-Related Hereditary Motor and Sensory Neuropathy
Thomas D Bird.
Initial Posting: May 11, 2004; Last Update: March 30, 2017.
- GLB1-Related Disorders
Debra S Regier and Cynthia J Tifft.
Initial Posting: October 17, 2013.
- GLYT1 Encephalopathy
Alina Kurolap, Tova Hershkovitz, and Hagit N Baris.
Initial Posting: November 30, 2017.
- GNE-Related Myopathy
Erin K O’Ferrall and Michael Sinnreich.
Initial Posting: March 26, 2004; Last Update: March 7, 2013.
- GRIN2A-Related Speech Disorders and Epilepsy
Kenneth A Myers and Ingrid E Scheffer.
Initial Posting: September 29, 2016.
- GRIN2B-Related Neurodevelopmental Disorder
Konrad Platzer and Johannes R Lemke.
Initial Posting: May 31, 2018.
- GRN-Related Frontotemporal Dementia
Ging-Yuek Robin Hsiung and Howard H Feldman.
Initial Posting: September 7, 2007; Last Update: March 14, 2013.
- GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
Yoshiaki Furukawa.
Initial Posting: February 21, 2002; Last Update: March 5, 2015.
- Gaucher Disease
Gregory M Pastores and Derralynn A Hughes.
Initial Posting: July 27, 2000; Last Update: June 21, 2018.
- Geleophysic Dysplasia
Pauline Marzin and Valérie Cormier-Daire.
Initial Posting: September 22, 2009; Last Update: October 11, 2018.
- Generalized Arterial Calcification of Infancy
Carlos Ferreira, Shira Ziegler, and William A Gahl.
Initial Posting: November 13, 2014.
- Genetic Atypical Hemolytic-Uremic Syndrome
Marina Noris, Elena Bresin, Caterina Mele, and Giuseppe Remuzzi.
Initial Posting: November 16, 2007; Last Update: June 9, 2016.
- Genetic Prion Diseases
James A Mastrianni.
Initial Posting: March 27, 2003; Last Update: January 2, 2014.
- Giant Axonal Neuropathy
Gregor Kuhlenbäumer, Vincent Timmerman, and Pascale Bomont.
Initial Posting: January 9, 2003; Last Update: October 9, 2014.
- Glucose Transporter Type 1 Deficiency Syndrome
Dong Wang, Juan M Pascual, and Darryl De Vivo.
Initial Posting: July 30, 2002; Last Update: March 1, 2018.
- Glycine Encephalopathy
Johan Van Hove, Curtis Coughlin, II, and Gunter Scharer.
Initial Posting: November 14, 2002; Last Update: July 11, 2013.
- Glycogen Storage Disease Type I
Deeksha S Bali, Yuan-Tsong Chen, Stephanie Austin, and Jennifer L Goldstein.
Initial Posting: April 19, 2006; Last Update: August 25, 2016.
- Glycogen Storage Disease Type III
Aditi Dagli, Christiaan P Sentner, and David A Weinstein.
Initial Posting: March 9, 2010; Last Update: December 29, 2016.
- Glycogen Storage Disease Type IV
Pilar L Magoulas and Ayman W El-Hattab.
Initial Posting: January 3, 2013.
- Glycogen Storage Disease Type V
Miguel A Martín, Alejandro Lucía, Joaquin Arenas, and Antonio L Andreu.
Initial Posting: April 19, 2006; Last Update: June 26, 2014.
- Glycogen Storage Disease Type VI
Aditi I Dagli and David A Weinstein.
Initial Posting: April 23, 2009; Last Update: May 17, 2011.
- Greig Cephalopolysyndactyly Syndrome
Leslie G Biesecker.
Initial Posting: July 9, 2001; Last Update: June 19, 2014.
H
- HFE Hemochromatosis
James C Barton and Corwin Q Edwards.
Initial Posting: April 3, 2000; Last Update: December 6, 2018.
- Hand-Foot-Genital Syndrome
Jeffrey W Innis.
Initial Posting: July 11, 2006; Last Update: May 3, 2012.
- Hartsfield Syndrome
Radhika Dhamija and Dusica Babovic-Vuksanovic.
Initial Posting: March 3, 2016.
- Hemophagocytic Lymphohistiocytosis, Familial
Kejian Zhang, Alexandra H Filipovich, Judith Johnson, Rebecca A Marsh, and Joyce Villanueva.
Initial Posting: March 22, 2006; Last Update: January 17, 2013.
- Hemophilia A
Barbara A Konkle, Haley Huston, and Shelley Nakaya Fletcher.
Initial Posting: September 21, 2000; Last Revision: June 22, 2017.
- Hemophilia B
Barbara A Konkle, Haley Huston, and Shelley Nakaya Fletcher.
Initial Posting: October 2, 2000; Last Update: June 15, 2017.
- Hepatic Veno-Occlusive Disease with Immunodeficiency
Tony Roscioli, John B Ziegler, Michael Buckley, and Melanie Wong.
Initial Posting: February 21, 2007; Last Update: January 12, 2017.
- Hepatoerythropoietic Porphyria
Lawrence U Liu, John Phillips, Herbert Bonkovsky; Porphyrias Consortium of the Rare Diseases Clinical Research Network.
Initial Posting: October 31, 2013; Last Update: December 22, 2016.
- Hereditary Ataxia Overview
Thomas D Bird.
Initial Posting: October 28, 1998; Last Revision: September 27, 2018.
- Hereditary Coproporphyria
Bruce Wang and D Montgomery Bissell.
Initial Posting: December 13, 2012; Last Update: November 8, 2018.
- Hereditary Diffuse Gastric Cancer
Pardeep Kaurah and David G Huntsman.
Initial Posting: November 4, 2002; Last Update: March 22, 2018.
- Hereditary Dystonia Overview
Christine Klein, Katja Lohmann, Connie Marras, and Alexander Münchau.
Initial Posting: October 28, 2003; Last Update: June 22, 2017.
- Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
Sandra Mercier, Sébastien Küry, and Sébastien Barbarot.
Initial Posting: October 13, 2016.
- Hereditary Folate Malabsorption
David Kronn and I David Goldman.
Initial Posting: June 17, 2008; Last Update: April 27, 2017.
- Hereditary Fructose Intolerance
Peter Baker, II, Lachlan Ayres, Sommer Gaughan, and James Weisfeld-Adams.
Initial Posting: December 17, 2015.
- Hereditary Hearing Loss and Deafness Overview
A Eliot Shearer, Michael S Hildebrand, and Richard JH Smith.
Initial Posting: February 14, 1999; Last Update: July 27, 2017.
- Hereditary Hemorrhagic Telangiectasia
Jamie McDonald and Reed E Pyeritz.
Initial Posting: June 26, 2000; Last Update: February 2, 2017.
- Hereditary Leiomyomatosis and Renal Cell Cancer
Manop Pithukpakorn and Jorge R Toro.
Initial Posting: July 31, 2006; Last Update: August 6, 2015.
- Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Nicolas Dupré, Heidi C Howard, and Guy A Rouleau.
Initial Posting: February 2, 2006; Last Update: June 12, 2014.
- Hereditary Multiple Osteochondromas
Wim Wuyts, Gregory A Schmale, Howard A Chansky, and Wendy H Raskind.
Initial Posting: August 3, 2000; Last Update: November 21, 2013.
- Hereditary Myopathy with Early Respiratory Failure
Gerald Pfeffer and Patrick F Chinnery.
Initial Posting: February 27, 2014.
- Hereditary Neuralgic Amyotrophy
Nens van Alfen, Mark C Hannibal, Phillip F Chance, and Baziel GM van Engelen.
Initial Posting: February 27, 2008; Last Update: December 6, 2012.
- Hereditary Neuropathy with Liability to Pressure Palsies
Thomas D Bird.
Initial Posting: September 28, 1998; Last Update: September 25, 2014.
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
Tobi Else, Samantha Greenberg, and Lauren Fishbein.
Initial Posting: May 21, 2008; Last Update: October 4, 2018.
- Hereditary Sensory and Autonomic Neuropathy Type II
Ingo Kurth.
Initial Posting: November 23, 2010; Last Update: February 19, 2015.
- Hereditary Spastic Paraplegia Overview
Peter Hedera.
Initial Posting: August 15, 2000; Last Update: September 27, 2018.
- Hereditary Transthyretin Amyloidosis
Yoshiki Sekijima.
Initial Posting: November 5, 2001; Last Update: December 20, 2018.
- Heritable Pulmonary Arterial Hypertension
Eric D Austin, James E Loyd, and John A Phillips, III.
Initial Posting: July 18, 2002; Last Update: June 11, 2015.
- Heritable Thoracic Aortic Disease Overview
Dianna M Milewicz and Ellen Regalado.
Initial Posting: February 13, 2003; Last Revision: December 14, 2017.
- Hermansky-Pudlak Syndrome
Marjan Huizing, May Christine V Malicdan, Bernadette R Gochuico, and William A Gahl.
Initial Posting: July 24, 2000; Last Update: October 26, 2017.
- Hexosaminidase A Deficiency
Michael M Kaback and Robert J Desnick.
Initial Posting: March 11, 1999; Last Update: August 11, 2011.
- Hidrotic Ectodermal Dysplasia 2
Vazken M Der Kaloustian.
Initial Posting: April 25, 2005; Last Update: January 22, 2015.
- Hirschsprung Disease Overview
Melissa A Parisi.
Initial Posting: July 12, 2002; Last Update: October 1, 2015.
- Holoprosencephaly Overview
Benjamin D Solomon, Andrea Gropman, and Maximilian Muenke.
Initial Posting: December 27, 2000; Last Update: August 29, 2013.
- Holt-Oram Syndrome
Deborah A McDermott, Jamie C Fong, and Craig T Basson.
Initial Posting: July 20, 2004; Last Update: October 8, 2015.
- Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
Stephanie J Sacharow, Jonathan D Picker, and Harvey L Levy.
Initial Posting: January 15, 2004; Last Update: May 18, 2017.
- Huntington Disease
Nicholas S Caron, Galen EB Wright, and Michael R Hayden.
Initial Posting: October 23, 1998; Last Update: July 5, 2018.
- Huntington Disease-Like 2
Russell L Margolis.
Initial Posting: January 30, 2004; Last Update: April 26, 2012.
- Hutchinson-Gilford Progeria Syndrome
Leslie B Gordon, W Ted Brown, and Francis S Collins.
Initial Posting: December 12, 2003; Last Update: January 8, 2015.
- Hyalinosis, Inherited Systemic
Joseph TC Shieh, H Eugene Hoyme, and Laura T Arbour.
Initial Posting: February 27, 2008; Last Update: April 11, 2013.
- Hyperekplexia
Marina AJ Tijssen and Mark I Rees.
Initial Posting: July 31, 2007; Last Update: October 4, 2012.
- Hyperkalemic Periodic Paralysis
Frank Weber, Karin Jurkat-Rott, and Frank Lehmann-Horn.
Initial Posting: July 18, 2003; Last Update: January 28, 2016.
- Hypermobile Ehlers-Danlos Syndrome
Howard P Levy.
Initial Posting: October 22, 2004; Last Revision: June 21, 2018.
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Jose Camacho and Natalia Rioseco-Camacho.
Initial Posting: May 31, 2012.
- Hyperphosphatemic Familial Tumoral Calcinosis
Mary Scott Ramnitz, Rachel I Gafni, and Michael T Collins.
Initial Posting: February 1, 2018.
- Hypertrophic Cardiomyopathy Overview
Allison L Cirino and Carolyn Ho.
Initial Posting: August 5, 2008; Last Update: January 16, 2014.
- Hypochondroplasia
Michael B Bober, Gary A Bellus, Sarah M Nikkel, and George E Tiller.
Initial Posting: July 15, 1999; Last Update: September 26, 2013.
- Hypohidrotic Ectodermal Dysplasia
J Timothy Wright, Dorothy K Grange, and Mary Fete.
Initial Posting: April 28, 2003; Last Update: June 1, 2017.
- Hypokalemic Periodic Paralysis
Frank Weber and Frank Lehmann-Horn.
Initial Posting: April 30, 2002; Last Update: July 26, 2018.
- Hypomyelination and Congenital Cataract
Roberta Biancheri, Federico Zara, Claudio Bruno, Elisabetta Gazzerro, Andrea Rossi, Marjo S van der Knaap, and Carlo Minetti.
Initial Posting: October 14, 2008; Last Update: June 4, 2015.
- Hypophosphatasia
Etienne Mornet and Mark E Nunes.
Initial Posting: November 20, 2007; Last Update: February 4, 2016.
I
- IMAGe Syndrome
James Bennett, Samantha A Schrier Vergano, and Matthew A Deardorff.
Initial Posting: March 13, 2014; Last Update: September 8, 2016.
- INSR-Related Severe Syndromic Insulin Resistance
Shani Ben Harouch, Aharon Klar, and Tzipora C Falik Zaccai.
Initial Posting: January 25, 2018.
- IPEX Syndrome
Queenie K-G Tan, Raymond J Louie, and John W Sleasman.
Initial Posting: October 19, 2004; Last Update: July 19, 2018.
- IRF6-Related Disorders
Brian C Schutte, Howard M Saal, Steven Goudy, and Elizabeth Leslie.
Initial Posting: October 30, 2003; Last Update: July 3, 2014.
- ISCA2-Related Mitochondrial Disorder
Zuhair N Al-Hassnan and Namik Kaya.
Initial Posting: February 22, 2018.
- Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Virginia Kimonis, Sandra Donkervoort, and Giles Watts.
Initial Posting: May 25, 2007; Last Update: July 28, 2011.
- Incontinentia Pigmenti
Angela E Scheuerle and Matilde Valeria Ursini.
Initial Posting: June 8, 1999; Last Update: December 21, 2017.
- Infantile-Onset Spinocerebellar Ataxia
Tuula Lönnqvist.
Initial Posting: January 27, 2009; Last Update: April 19, 2018.
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
Ravikumar Balasubramanian and William F Crowley, Jr.
Initial Posting: May 23, 2007; Last Update: March 2, 2017.
- Isolated Methylmalonic Acidemia
Irini Manoli, Jennifer L Sloan, and Charles P Venditti.
Initial Posting: August 16, 2005; Last Revision: December 1, 2016.
- Isolated Sulfite Oxidase Deficiency
Parayil Sankaran Bindu, Madhu Nagappa, Rose Dawn Bharath, and Arun B Taly.
Initial Posting: September 21, 2017.
J
- Jervell and Lange-Nielsen Syndrome
Lisbeth Tranebjærg, Ricardo A Samson, and Glenn Edward Green.
Initial Posting: July 29, 2002; Last Update: August 17, 2017.
- Joubert Syndrome
Melissa Parisi and Ian Glass.
Initial Posting: July 9, 2003; Last Update: June 29, 2017.
- Junctional Epidermolysis Bullosa
Ellen G Pfendner and Anne W Lucky.
Initial Posting: February 22, 2008; Last Update: December 20, 2018.
- Juvenile Hereditary Hemochromatosis
Y Paul Goldberg.
Initial Posting: February 17, 2005; Last Update: August 11, 2011.
- Juvenile Polyposis Syndrome
Joy Larsen Haidle and James R Howe.
Initial Posting: May 13, 2003; Last Update: March 9, 2017.
K
- KANSL1-Related Intellectual Disability Syndrome
David A Koolen and Bert BA de Vries.
Initial Posting: January 26, 2010; Last Revision: January 10, 2013.
- KAT6B-Related Disorders
Philippe M Campeau and Brendan H Lee.
Initial Posting: December 13, 2012; Last Revision: January 10, 2013.
- KBG Syndrome
Dayna Morel Swols and Mustafa Tekin.
Initial Posting: March 22, 2018.
- KCNK9 Imprinting Syndrome
Neda Zadeh and John M Graham, Jr.
Initial Posting: March 23, 2017.
- KCNQ2-Related Disorders
Francesco Miceli, Maria Virginia Soldovieri, Nishtha Joshi, Sarah Weckhuysen, Edward Cooper, and Maurizio Taglialatela.
Initial Posting: April 27, 2010; Last Revision: September 27, 2018.
- KCNQ3-Related Disorders
Francesco Miceli, Maria Virginia Soldovieri, Nishtha Joshi, Sarah Weckhuysen, Edward C Cooper, and Maurizio Taglialatela.
Initial Posting: May 22, 2014; Last Update: September 7, 2017.
- KCNT1-Related Epilepsy
Tracy Gertler, David Bearden, Arin Bhattacharjee, and Gemma Carvill.
Initial Posting: September 20, 2018.
- KMT2B-Related Dystonia
Lucia Abela and Manju Ann Kurian.
Initial Posting: April 26, 2018.
- Kabuki Syndrome
Margaret P Adam, Louanne Hudgins, and Mark Hannibal.
Initial Posting: September 1, 2011; Last Revision: May 16, 2013.
- Kaufman Oculocerebrofacial Syndrome
Lina Basel-Vanagaite and Guntram Borck.
Initial Posting: October 20, 2016.
- Kindler Syndrome
Leila Youssefian, Hassan Vahidnezhad, and Jouni Uitto.
Initial Posting: March 3, 2016; Last Revision: December 1, 2016.
- Kleefstra Syndrome
Tjitske Kleefstra, Willy M Nillesen, and Helger G Yntema.
Initial Posting: October 5, 2010; Last Update: May 7, 2015.
- Krabbe Disease
Joseph J Orsini, Maria L Escolar, Melissa P Wasserstein, and Michele Caggana.
Initial Posting: June 19, 2000; Last Update: October 11, 2018.
L
- L1 Syndrome
Connie Stumpel and Yvonne J Vos.
Initial Posting: April 28, 2004; Last Update: March 5, 2015.
- LAMA2-Related Muscular Dystrophy
Susana Quijano-Roy, Susan E Sparks, and Anne Rutkowski.
Initial Posting: June 7, 2012.
- LMNA-Related Dilated Cardiomyopathy
Ray E Hershberger and Ana Morales.
Initial Posting: June 12, 2008; Last Update: July 7, 2016.
- LRRK2-Related Parkinson Disease
Joanne Trinh, Matthew Farrer, Owen A Ross, and Ilaria Guella.
Initial Posting: November 2, 2006; Last Update: December 11, 2014.
- LTBP4-Related Cutis Laxa
Bert L Callewaert and Zsolt Urban.
Initial Posting: February 11, 2016.
- Laing Distal Myopathy
Phillipa Lamont and Nigel G Laing.
Initial Posting: October 17, 2006; Last Update: March 12, 2015.
- Lateral Meningocele Syndrome
Resham Ejaz, Melissa Carter, and Karen Gripp.
Initial Posting: June 23, 2016.
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
Neruban Kumaran, Mark E Pennesi, Paul Yang, Karmen M Trzupek, Catherine Schlechter, Anthony T Moore, Richard G Weleber, and Michel Michaelides.
Initial Posting: October 4, 2018.
- Leber Hereditary Optic Neuropathy
Patrick Yu-Wai-Man and Patrick F Chinnery.
Initial Posting: October 26, 2000; Last Update: June 23, 2016.
- Legius Syndrome
David Stevenson, David Viskochil, and Rong Mao.
Initial Posting: October 14, 2010; Last Update: January 15, 2015.
- Lenz Microphthalmia Syndrome
David Ng.
Initial Posting: June 4, 2002; Last Update: October 2, 2014.
- Lesch-Nyhan Syndrome
William L Nyhan, J Patrick O'Neill, Hyder A Jinnah, and James C Harris.
Initial Posting: September 25, 2000; Last Update: May 15, 2014.
- Leukodystrophy Overview
Adeline Vanderver, Davide Tonduti, Raphael Schiffmann, Johanna Schmidt, and Marjo S van der Knaap.
Initial Posting: February 6, 2014.
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
Marjo S van der Knaap and Gajja S Salomons.
Initial Posting: May 25, 2010; Last Update: February 12, 2015.
- Li-Fraumeni Syndrome
Katherine Schneider, Kristin Zelley, Kim E Nichols, and Judy Garber.
Initial Posting: January 19, 1999; Last Update: April 11, 2013.
- Lipoid Proteinosis
Hassan Vahidnezhad, Leila Youssefian, and Jouni Uitto.
Initial Posting: January 21, 2016.
- Loeys-Dietz Syndrome
Bart L Loeys and Harry C Dietz.
Initial Posting: February 28, 2008; Last Update: March 1, 2018.
- Long QT Syndrome
Mariëlle Alders, Hennie Bikker, and Imke Christiaans.
Initial Posting: February 20, 2003; Last Update: February 8, 2018.
- Lowe Syndrome
Richard Alan Lewis, Robert L Nussbaum, and Eileen D Brewer.
Initial Posting: July 24, 2001; Last Update: February 23, 2012.
- Lymphedema-Distichiasis Syndrome
Sahar Mansour, Glen W Brice, Steve Jeffery, and Peter Mortimer.
Initial Posting: March 29, 2005; Last Update: May 24, 2012.
- Lymphoproliferative Disease, X-Linked
Kejian Zhang, Emily Wakefield, and Rebecca Marsh.
Initial Posting: February 27, 2004; Last Update: June 30, 2016.
- Lynch Syndrome
Wendy Kohlmann and Stephen B Gruber.
Initial Posting: February 5, 2004; Last Revision: April 12, 2018.
- Lysinuric Protein Intolerance
Virginia Nunes and Harri Niinikoski.
Initial Posting: December 21, 2006; Last Update: April 12, 2018.
- Lysosomal Acid Lipase Deficiency
Erin P Hoffman, Marci L Barr, Monica A Giovanni, and Michael F Murray.
Initial Posting: July 30, 2015; Last Revision: September 1, 2016.
M
- MBD5 Haploinsufficiency
Sureni V Mullegama, Roberto Mendoza-Londono, and Sarah H Elsea.
Initial Posting: October 27, 2016.
- MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency
Alexandra M Dumitrescu, Jiao Fu, Melissa A Dempsey, and Samuel Refetoff.
Initial Posting: March 9, 2010; Last Update: April 11, 2013.
- MECP2 Duplication Syndrome
Hilde Van Esch.
Initial Posting: January 18, 2008; Last Update: October 9, 2014.
- MECP2-Related Disorders
John Christodoulou and Gladys Ho.
Initial Posting: October 3, 2001; Last Update: June 28, 2012.
- MED12-Related Disorders
Michael J Lyons.
Initial Posting: June 23, 2008; Last Update: August 11, 2016.
- MEGDEL Syndrome
Saskia B Wortmann, Arjan PM de Brouwer, Ron A Wevers, and Eva Morava.
Initial Posting: April 17, 2014.
- MELAS
Ayman W El-Hattab, Mohammed Almannai, and Fernando Scaglia.
Initial Posting: February 27, 2001; Last Update: November 29, 2018.
- MERRF
Salvatore DiMauro and Michio Hirano.
Initial Posting: June 3, 2003; Last Update: January 29, 2015.
- MPPH Syndrome
Ghayda Mirzaa.
Initial Posting: November 17, 2016.
- MPV17-Related Mitochondrial DNA Maintenance Defect
Ayman W El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Fernando Scaglia, William J Craigen, and Lee-Jun C Wong.
Initial Posting: May 17, 2012; Last Update: May 17, 2018.
- MUTYH-Associated Polyposis
Maartje Nielsen, Henry Lynch, Elena Infante, and Randall Brand.
Initial Posting: October 4, 2012; Last Update: September 24, 2015.
- MYH9-Related Disorders
Anna Savoia and Alessandro Pecci.
Initial Posting: November 20, 2008; Last Update: July 16, 2015.
- Majeed Syndrome
Hatem El-Shanti and Polly Ferguson.
Initial Posting: September 23, 2008; Last Update: March 14, 2013.
- Malignant Hyperthermia Susceptibility
Henry Rosenberg, Nyamkhishig Sambuughin, Sheila Riazi, and Robert Dirksen.
Initial Posting: December 19, 2003; Last Update: January 31, 2013.
- Mandibulofacial Dysostosis with Microcephaly
Matthew Lines, Taila Hartley, and Kym M Boycott.
Initial Posting: July 3, 2014.
- Manitoba Oculotrichoanal Syndrome
Chumei Li, Anne Slavotinek, and Albert E Chudley.
Initial Posting: July 9, 2008; Last Update: October 13, 2011.
- Maple Syrup Urine Disease
Kevin A Strauss, Erik G Puffenberger, and D Holmes Morton.
Initial Posting: January 30, 2006; Last Update: May 9, 2013.
- Marfan Syndrome
Harry Dietz.
Initial Posting: April 18, 2001; Last Update: October 12, 2017.
- Marinesco-Sjögren Syndrome
Anna-Kaisa Anttonen and Anna-Elina Lehesjoki.
Initial Posting: November 29, 2006; Last Update: September 7, 2010.
- Maturity-Onset Diabetes of the Young Overview
Rochelle Naylor, Amy Knight Johnson, and Daniela del Gaudio.
Initial Posting: May 24, 2018.
- McKusick-Kaufman Syndrome
Anne M Slavotinek.
Initial Posting: September 10, 2002; Last Update: June 4, 2015.
- McLeod Neuroacanthocytosis Syndrome
Hans H Jung, Adrian Danek, Ruth H Walker, Beat M Frey, and Christoph Gassner.
Initial Posting: December 3, 2004; Last Update: May 17, 2012.
- Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Dietrich Matern and Piero Rinaldo.
Initial Posting: April 20, 2000; Last Update: March 5, 2015.
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
Marjo S van der Knaap, Truus EM Abbink, and Rogier Min.
Initial Posting: August 11, 2003; Last Update: March 29, 2018.
- Microcephaly-Capillary Malformation Syndrome
Melissa T Carter, Ghayda Mirzaa, Laura M McDonell, and Kym M Boycott.
Initial Posting: December 12, 2013.
- Microphthalmia with Linear Skin Defects Syndrome
Manuela Morleo and Brunella Franco.
Initial Posting: June 18, 2009; Last Update: July 26, 2018.
- Microphthalmia/Anophthalmia/Coloboma Spectrum
Tanya Bardakjian, Avery Weiss, and Adele Schneider.
Initial Posting: January 29, 2004; Last Update: July 9, 2015.
- Milroy Disease
Glen W Brice, Sahar Mansour, Pia Ostergaard, Fiona Connell, Steve Jeffery, and Peter Mortimer.
Initial Posting: April 27, 2006; Last Update: September 25, 2014.
- Mitochondrial DNA Deletion Syndromes
Salvatore DiMauro and Michio Hirano.
Initial Posting: December 17, 2003; Last Update: May 3, 2011.
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
David R Thorburn, Joyeeta Rahman, and Shamima Rahman.
Initial Posting: October 30, 2003; Last Update: September 28, 2017.
- Mitochondrial DNA Maintenance Defects Overview
Ayman W El-Hattab, William J Craigen, Lee-Jun C Wong, and Fernando Scaglia.
Initial Posting: March 8, 2018.
- Mitochondrial Disorders Overview
Patrick F Chinnery.
Initial Posting: June 8, 2000; Last Update: August 14, 2014.
- Mitochondrial Membrane Protein-Associated Neurodegeneration
Allison Gregory, Monika Hartig, Holger Prokisch, Tomasz Kmiec, Penelope Hogarth, and Susan J Hayflick.
Initial Posting: February 27, 2014.
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
Michio Hirano.
Initial Posting: April 22, 2005; Last Update: January 14, 2016.
- Mowat-Wilson Syndrome
Margaret P Adam, Jessie Conta, and Lora JH Bean.
Initial Posting: March 28, 2007; Last Update: November 26, 2013.
- Mucolipidosis II
Jules G Leroy, Sara Cathey, and Michael J Friez.
Initial Posting: August 26, 2008; Last Update: May 10, 2012.
- Mucolipidosis III Alpha/Beta
Jules G Leroy, Sara S Cathey, and Michael J Friez.
Initial Posting: August 26, 2008; Last Update: May 10, 2012.
- Mucolipidosis III Gamma
Annick Raas-Rothschild and Ronen Spiegel.
Initial Posting: January 28, 2010; Last Update: July 5, 2012.
- Mucolipidosis IV
Raphael Schiffmann, Yulia Grishchuk, and Ehud Goldin.
Initial Posting: January 28, 2005; Last Update: July 30, 2015.
- Mucopolysaccharidosis Type I
Lorne A Clarke.
Initial Posting: October 31, 2002; Last Update: February 11, 2016.
- Mucopolysaccharidosis Type II
Maurizio Scarpa.
Initial Posting: November 6, 2007; Last Update: October 4, 2018.
- Mucopolysaccharidosis Type IVA
Debra S Regier, Matthew Oetgen, and Pranoot Tanpaiboon.
Initial Posting: July 11, 2013; Last Update: March 24, 2016.
- Muenke Syndrome
Paul Kruszka, Yonit A Addissie, Nneamaka B Agochukwu, Emily S Doherty, and Maximilian Muenke.
Initial Posting: May 10, 2006; Last Update: November 10, 2016.
- Multicentric Osteolysis Nodulosis and Arthropathy
Gandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, and Katta Mohan Girisha.
Initial Posting: July 14, 2016.
- Multiminicore Disease
Alan H Beggs and Pankaj B Agrawal.
Initial Posting: March 25, 2003; Last Update: January 24, 2013.
- Multiple Cutaneous and Mucosal Venous Malformations
Laurence M Boon and Miikka Vikkula.
Initial Posting: September 18, 2008; Last Update: May 17, 2018.
- Multiple Endocrine Neoplasia Type 1
Francesca Giusti, Francesca Marini, and Maria Luisa Brandi.
Initial Posting: August 31, 2005; Last Update: December 14, 2017.
- Multiple Endocrine Neoplasia Type 2
Jessica Marquard and Charis Eng.
Initial Posting: September 27, 1999; Last Update: June 25, 2015.
- Multiple Epiphyseal Dysplasia, Autosomal Dominant
Michael D Briggs, Michael J Wright, and Geert R Mortier.
Initial Posting: January 8, 2003; Last Update: November 19, 2015.
- Multiple Epiphyseal Dysplasia, Recessive
Luisa Bonafé, Lauréane Mittaz-Crettol, Diana Ballhausen, and Andrea Superti-Furga.
Initial Posting: August 29, 2002; Last Update: January 23, 2014.
- Myhre Syndrome
Lois J Starr, Noralane M Lindor, and Angela E Lin.
Initial Posting: April 13, 2017.
- Myoclonus-Dystonia
Deborah Raymond and Laurie Ozelius.
Initial Posting: May 21, 2003; Last Update: January 26, 2012.
- Myofibrillar Myopathy
Duygu Selcen and Andrew G Engel.
Initial Posting: January 28, 2005; Last Update: October 29, 2012.
- Myopathy with Deficiency of ISCU
Fanny Mochel and Ronald G Haller.
Initial Posting: March 31, 2009; Last Update: March 3, 2016.
- Myostatin-Related Muscle Hypertrophy
Kathryn R Wagner and Julie S Cohen.
Initial Posting: October 5, 2005; Last Update: July 3, 2013.
- Myotonia Congenita
Morten Dunø and Eskild Colding-Jørgensen.
Initial Posting: August 3, 2005; Last Update: August 6, 2015.
- Myotonic Dystrophy Type 1
Thomas D Bird.
Initial Posting: September 17, 1999; Last Revision: December 6, 2018.
- Myotonic Dystrophy Type 2
Joline C Dalton, Laura PW Ranum, and John W Day.
Initial Posting: September 21, 2006; Last Update: July 3, 2013.
N
-
NDP-Related Retinopathies
Katherine B Sims.
Initial Posting: July 30, 1999; Last Update: September 18, 2014.
- NGLY1-Related Congenital Disorder of Deglycosylation
Christina Lam, Lynne Wolfe, Anna Need, Vandana Shashi, and Gregory Enns.
Initial Posting: February 8, 2018.
- NKX2-1-Related Disorders
Neepa Jayant Patel and Joseph Jankovic.
Initial Posting: February 20, 2014; Last Update: July 29, 2016.
- NKX6-2-Related Disorder
Viorica Chelban, Namik Kaya, Fowzan Alkuraya, and Henry Houlden.
Initial Posting: October 4, 2018.
- NR0B1-Related Adrenal Hypoplasia Congenita
John C Achermann and Eric J Vilain.
Initial Posting: November 20, 2001; Last Update: January 25, 2018.
- NSDHL-Related Disorders
Christèle du Souich, F Lucy Raymond, Karl-Heinz Grzeschik, and Cornelius F Boerkoel.
Initial Posting: February 1, 2011; Last Update: October 25, 2018.
- Nail-Patella Syndrome
Elizabeth Sweeney, Julie E Hoover-Fong, and Iain McIntosh.
Initial Posting: May 31, 2003; Last Update: November 13, 2014.
- Nemaline Myopathy
Kathryn N North and Monique M Ryan.
Initial Posting: June 19, 2002; Last Revision: June 11, 2015.
- Nephrogenic Diabetes Insipidus
Nine Knoers.
Initial Posting: February 12, 2000; Last Update: June 14, 2012.
- Nephronophthisis
Marijn Stokman, Marc Lilien, and Nine Knoers.
Initial Posting: June 23, 2016.
- Neurodegeneration with Brain Iron Accumulation Disorders Overview
Allison Gregory and Susan Hayflick.
Initial Posting: February 28, 2013; Last Revision: April 24, 2014.
- Neuroferritinopathy
Patrick F Chinnery.
Initial Posting: April 25, 2005; Last Update: January 18, 2018.
- Neurofibromatosis 1
JM Friedman.
Initial Posting: October 2, 1998; Last Revision: May 17, 2018.
- Neurofibromatosis 2
D Gareth Evans.
Initial Posting: October 14, 1998; Last Update: March 15, 2018.
- Neuronal Ceroid-Lipofuscinoses
Sara E Mole and Ruth E Williams.
Initial Posting: October 10, 2001; Last Update: August 1, 2013.
- Nevoid Basal Cell Carcinoma Syndrome
D Gareth Evans and Peter A Farndon.
Initial Posting: June 20, 2002; Last Update: March 29, 2018.
- Nicolaides-Baraitser Syndrome
Omar Abdul-Rahman.
Initial Posting: October 15, 2015.
- Niemann-Pick Disease Type C
Marc Patterson.
Initial Posting: January 26, 2000; Last Update: July 18, 2013.
- Nijmegen Breakage Syndrome
Raymonda Varon, Ilja Demuth, and Krystyna H Chrzanowska.
Initial Posting: May 17, 1999; Last Update: February 2, 2017.
- Nonsyndromic 46,XX Testicular Disorders of Sex Development
Emmanuèle C Délot and Eric J Vilain.
Initial Posting: October 30, 2003; Last Update: May 7, 2015.
- Nonsyndromic Disorders of Testicular Development
Lauren Mohnach, Patricia Y Fechner, and Catherine E Keegan.
Initial Posting: May 21, 2008; Last Update: June 2, 2016.
- Nonsyndromic Hearing Loss and Deafness, DFNA3
Richard JH Smith and Paul T Ranum.
Initial Posting: September 28, 1998; Last Update: December 22, 2016.
- Nonsyndromic Hearing Loss and Deafness, DFNB1
Richard JH Smith and Mary-Kayt N Jones.
Initial Posting: September 28, 1998; Last Update: August 18, 2016.
- Nonsyndromic Hearing Loss and Deafness, Mitochondrial
Shin-ichi Usami and Shin-ya Nishio.
Initial Posting: October 22, 2004; Last Update: June 14, 2018.
- Nonsyndromic Retinitis Pigmentosa Overview
Abigail T Fahim, Stephen P Daiger, and Richard G Weleber.
Initial Posting: August 4, 2000; Last Update: January 19, 2017.
- Noonan Syndrome
Judith E Allanson and Amy E Roberts.
Initial Posting: November 15, 2001; Last Update: February 25, 2016.
- Noonan Syndrome with Multiple Lentigines
Bruce D Gelb and Marco Tartaglia.
Initial Posting: November 30, 2007; Last Update: May 14, 2015.
- Nuclear Gene-Encoded Leigh Syndrome Overview
Shamima Rahman and David Thorburn.
Initial Posting: October 1, 2015.
O
- OPA3-Related 3-Methylglutaconic Aciduria
Meral Gunay-Aygun, Marjan Huizing, and Yair Anikster.
Initial Posting: July 28, 2006; Last Update: December 19, 2013.
- OTOF-Related Deafness
A Eliot Shearer and Richard JH Smith.
Initial Posting: February 29, 2008; Last Update: July 30, 2015.
- Ocular Albinism, X-Linked
Richard Alan Lewis.
Initial Posting: March 12, 2004; Last Update: November 19, 2015.
- Oculocutaneous Albinism Type 1
Richard Alan Lewis.
Initial Posting: January 19, 2000; Last Update: May 16, 2013.
- Oculocutaneous Albinism Type 2
Richard Alan Lewis.
Initial Posting: July 17, 2003; Last Update: August 16, 2012.
- Oculocutaneous Albinism Type 4
Masahiro Hayashi and Tamio Suzuki.
Initial Posting: November 17, 2005; Last Update: September 7, 2017.
- Oculopharyngeal Muscular Dystrophy
Capucine Trollet, Teresa Gidaro, Pierre Klein, Sophie Périé, Gillian Butler-Browne, and Jean Lacau St Guily.
Initial Posting: March 8, 2001; Last Update: February 20, 2014.
- Optic Atrophy Type 1
Cécile Delettre-Cribaillet, Christian P Hamel, and Guy Lenaers.
Initial Posting: July 13, 2007; Last Update: November 12, 2015.
- Oral-Facial-Digital Syndrome Type I
Helga V Toriello, Brunella Franco, Ange-Line Bruel, and Christel Thauvin-Robinet.
Initial Posting: July 24, 2002; Last Update: August 4, 2016.
- Ornithine Transcarbamylase Deficiency
Uta Lichter-Konecki, Ljubica Caldovic, Hiroki Morizono, and Kara Simpson.
Initial Posting: August 29, 2013; Last Update: April 14, 2016.
- Otopalatodigital Spectrum Disorders
Stephen Robertson.
Initial Posting: November 30, 2005; Last Update: May 2, 2013.
P
- PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia
William B Dobyns and Soma Das.
Initial Posting: March 3, 2009; Last Update: August 14, 2014.
- PAX2-Related Disorder
Matthew A Bower, Lisa A Schimmenti, and Michael R Eccles.
Initial Posting: June 8, 2007; Last Update: February 8, 2018.
- PAX6-Related Aniridia
Mariya Moosajee, Melanie Hingorani, and Anthony T Moore.
Initial Posting: May 20, 2003; Last Update: October 18, 2018.
- PIK3CA-Related Segmental Overgrowth
Ghayda Mirzaa, Robert Conway, John M Graham, Jr, and William B Dobyns.
Initial Posting: August 15, 2013.
- PINK1 Type of Young-Onset Parkinson Disease
Susanne A Schneider and Christine Klein.
Initial Posting: March 16, 2010; Last Update: May 24, 2018.
- PLA2G6-Associated Neurodegeneration
Allison Gregory, Manju A Kurian, Eamonn R Maher, Penelope Hogarth, and Susan J Hayflick.
Initial Posting: June 19, 2008; Last Update: March 23, 2017.
- PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
Heather N Yeowell and Beat Steinmann.
Initial Posting: February 2, 2000; Last Revision: October 18, 2018.
- PLP1-Related Disorders
Grace M Hobson and John Kamholz.
Initial Posting: June 15, 1999; Last Update: February 28, 2013.
- PMM2-CDG (CDG-Ia)
Susan E Sparks and Donna M Krasnewich.
Initial Posting: August 15, 2005; Last Update: October 29, 2015.
- PNPLA6-Related Disorders
Matthis Synofzik, Robert B Hufnagel, and Stephan Züchner.
Initial Posting: October 9, 2014; Last Update: June 11, 2015.
- POLG-Related Disorders
Bruce H Cohen, Patrick F Chinnery, and William C Copeland.
Initial Posting: March 16, 2010; Last Update: March 1, 2018.
- POLR3-Related Leukodystrophy
Geneviève Bernard and Adeline Vanderver.
Initial Posting: August 2, 2012; Last Update: May 11, 2017.
- PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
Mark H Fox and Alexander G Bassuk.
Initial Posting: September 8, 2009; Last Update: April 10, 2014.
- PROP1-Related Combined Pituitary Hormone Deficiency
Laura CG de Graaff.
Initial Posting: December 7, 2000; Last Update: August 7, 2014.
- PRRT2-Associated Paroxysmal Movement Disorders
Darius Ebrahimi-Fakhari, Christelle Moufawad El Achkar, and Christine Klein.
Initial Posting: January 11, 2018.
- PTEN Hamartoma Tumor Syndrome
Charis Eng.
Initial Posting: November 29, 2001; Last Update: June 2, 2016.
- PURA-Related Neurodevelopmental Disorders
Margot RF Reijnders, Richard J Leventer, Bo Hoon Lee, Diana Baralle, Paulo Selber, Alex R Paciorkowski, and David Hunt.
Initial Posting: April 27, 2017.
- Pachyonychia Congenita
Frances JD Smith, C David Hansen, Peter R Hull, Roger L Kaspar, WH Irwin McLean, Edel O’Toole, and Eli Sprecher.
Initial Posting: January 27, 2006; Last Update: November 30, 2017.
- Pallister-Hall Syndrome
Leslie G Biesecker.
Initial Posting: May 25, 2000; Last Update: May 18, 2017.
- Pancreatitis Overview
Jessica LaRusch, Sheila Solomon, and David C Whitcomb.
Initial Posting: March 13, 2014.
- Pantothenate Kinase-Associated Neurodegeneration
Allison Gregory and Susan J Hayflick.
Initial Posting: August 13, 2002; Last Update: August 3, 2017.
- Parkin Type of Early-Onset Parkinson Disease
Norbert Brüggemann and Christine Klein.
Initial Posting: April 17, 2001; Last Update: April 4, 2013.
- Parkinson Disease Overview
Janice Farlow, Nathan D Pankratz, Joanne Wojcieszek, and Tatiana Foroud.
Initial Posting: May 25, 2004; Last Update: February 27, 2014.
- Pelizaeus-Merzbacher-Like Disease 1
Norah Nahhas, Alex Conant, Jennifer Orthmann-Murphy, Adeline Vanderver, and Grace Hobson.
Initial Posting: December 21, 2017.
- Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct
Richard JH Smith.
Initial Posting: September 28, 1998; Last Update: October 19, 2017.
- Permanent Neonatal Diabetes Mellitus
Diva D De León and Charles A Stanley.
Initial Posting: February 8, 2008; Last Update: July 29, 2016.
- Perrault Syndrome
William G Newman, Thomas B Friedman, Gerard S Conway, and Leigh AM Demain.
Initial Posting: September 25, 2014; Last Update: September 6, 2018.
- Perry Syndrome
Zbigniew Wszolek and Takuya Konno.
Initial Posting: September 30, 2010; Last Update: September 29, 2016.
- Peters Plus Syndrome
Saskia AJ Lesnik Oberstein, Claudia AL Ruivenkamp, and Raoul C Hennekam.
Initial Posting: October 8, 2007; Last Update: August 24, 2017.
- Peutz-Jeghers Syndrome
Thomas J McGarrity, Christopher I Amos, and Maria J Baker.
Initial Posting: February 23, 2001; Last Update: July 14, 2016.
- Phelan-McDermid Syndrome
Katy Phelan, R Curtis Rogers, and Luigi Boccuto.
Initial Posting: May 11, 2005; Last Update: June 7, 2018.
- Phenylalanine Hydroxylase Deficiency
Debra S Regier and Carol L Greene.
Initial Posting: January 10, 2000; Last Revision: January 5, 2017.
- Phosphoribosylpyrophosphate Synthetase Superactivity
Arjan PM de Brouwer, John A Duley, and John Christodoulou.
Initial Posting: September 23, 2008; Last Update: December 17, 2015.
- Phosphorylase Kinase Deficiency
Mrudu Herbert, Jennifer L Goldstein, Catherine Rehder, Stephanie Austin, Priya S Kishnani, and Deeksha S Bali.
Initial Posting: May 31, 2011; Last Update: November 1, 2018.
- Pitt-Hopkins Syndrome
David A Sweetser, Ibrahim Elsharkawi, Lael Yonker, Marcie Steeves, Kimberly Parkin, and Ronald Thibert.
Initial Posting: August 30, 2012; Last Update: April 12, 2018.
- Poikiloderma with Neutropenia
Lisa Wang, Carol Clericuzio, and Lidia Larizza.
Initial Posting: October 26, 2017.
- Polycystic Kidney Disease, Autosomal Dominant
Peter C Harris and Vicente E Torres.
Initial Posting: January 10, 2002; Last Update: July 19, 2018.
- Polycystic Kidney Disease, Autosomal Recessive
William E Sweeney and Ellis D Avner.
Initial Posting: July 19, 2001; Last Update: September 15, 2016.
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
Juha Paloneva, Taina Autti, Panu Hakola, and Matti J Haltia.
Initial Posting: January 24, 2002; Last Update: March 12, 2015.
- Polymicrogyria Overview
Chloe A Stutterd, William B Dobyns, Anna Jansen, Ghayda Mirzaa, and Richard J Leventer.
Initial Posting: April 18, 2005; Last Update: August 16, 2018.
- Pompe Disease
Nancy Leslie and Laurie Bailey.
Initial Posting: August 31, 2007; Last Update: May 11, 2017.
- Potocki-Lupski Syndrome
Lorraine Potocki, Juanita Neira-Fresneda, and Bo Yuan.
Initial Posting: August 24, 2017.
- Prader-Willi Syndrome
Daniel J Driscoll, Jennifer L Miller, Stuart Schwartz, and Suzanne B Cassidy.
Initial Posting: October 6, 1998; Last Revision: December 14, 2017.
- Primary Ciliary Dyskinesia
Maimoona A Zariwala, Michael R Knowles, and Margaret W Leigh.
Initial Posting: January 24, 2007; Last Update: September 3, 2015.
- Primary Coenzyme Q10 Deficiency
Leonardo Salviati, Eva Trevisson, Mara Doimo, and Placido Navas.
Initial Posting: January 26, 2017.
- Primary Congenital Glaucoma
Khaled K Abu-Amero and Deepak P Edward.
Initial Posting: September 30, 2004; Last Update: August 17, 2017.
- Primary Familial and Congenital Polycythemia
Celeste Bento, Mary Frances McMullin, Melanie Percy, and Holger Cario.
Initial Posting: November 10, 2016.
- Primary Familial Brain Calcification
Eliana Marisa Ramos, Joao Oliveira, Maria J Sobrido, and Giovanni Coppola.
Initial Posting: April 18, 2004; Last Update: August 24, 2017.
- Primary Hyperoxaluria Type 1
Dawn S Milliner, Peter C Harris, Andrea G Cogal, and John C Lieske.
Initial Posting: June 19, 2002; Last Update: November 30, 2017.
- Primary Hyperoxaluria Type 2
Gill Rumsby and Sally-Anne Hulton.
Initial Posting: December 2, 2008; Last Update: December 21, 2017.
- Primary Hyperoxaluria Type 3
Dawn S Milliner, Peter C Harris, and John C Lieske.
Initial Posting: September 24, 2015.
- Primary Trimethylaminuria
Ian R Phillips and Elizabeth A Shephard.
Initial Posting: October 8, 2007; Last Update: October 1, 2015.
- Progressive Myoclonus Epilepsy, Lafora Type
Anna C Jansen and Eva Andermann.
Initial Posting: December 28, 2007; Last Update: January 22, 2015.
- Progressive Pseudorheumatoid Dysplasia
Gandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, Ashwin Dalal, and Katta Mohan Girisha.
Initial Posting: November 25, 2015.
- Prolidase Deficiency
Carlos Ferreira and Heng Wang.
Initial Posting: June 25, 2015.
- Proopiomelanocortin Deficiency
Ben G Challis and George WM Millington.
Initial Posting: December 12, 2013.
- Propionic Acidemia
Oleg A Shchelochkov, Nuria Carrillo, and Charles Venditti.
Initial Posting: May 17, 2012; Last Update: October 6, 2016.
- Proteus Syndrome
Leslie G Biesecker and Julie C Sapp.
Initial Posting: August 9, 2012; Last Update: January 4, 2018.
- Prothrombin-Related Thrombophilia
Jody L Kujovich.
Initial Posting: July 25, 2006; Last Update: August 14, 2014.
- Pseudoachondroplasia
Michael D Briggs and Michael J Wright.
Initial Posting: August 20, 2004; Last Update: August 16, 2018.
- Pseudohypoaldosteronism Type II
David H Ellison.
Initial Posting: November 10, 2011; Last Update: February 16, 2017.
- Pseudoxanthoma Elasticum
Sharon F Terry and Lionel Bercovitch.
Initial Posting: June 5, 2001; Last Update: June 14, 2012.
- Pulmonary Fibrosis, Familial
Janet L Talbert and David A Schwartz.
Initial Posting: January 21, 2005; Last Update: March 19, 2015.
- Pyridoxine-Dependent Epilepsy
Sidney M Gospe, Jr.
Initial Posting: December 7, 2001; Last Update: April 13, 2017.
- Pyruvate Carboxylase Deficiency
Dong Wang and Darryl De Vivo.
Initial Posting: June 2, 2009; Last Update: March 1, 2018.
R
- RAB18 Deficiency
Mark Handley and Eamonn Sheridan.
Initial Posting: January 4, 2018.
-
RASA1-Related Disorders
Pinar Bayrak-Toydemir and David Stevenson.
Initial Posting: February 22, 2011; Last Update: October 6, 2016.
- ROR2-Related Robinow Syndrome
Carlos A Bacino.
Initial Posting: July 28, 2005; Last Update: July 26, 2018.
- RRM2B-Related Mitochondrial Disease
Gráinne S Gorman and Robert W Taylor.
Initial Posting: April 17, 2014.
- Refsum Disease
Ronald JA Wanders, Hans R Waterham, and Bart P Leroy.
Initial Posting: March 20, 2006; Last Update: June 11, 2015.
- Retinoblastoma
Dietmar R Lohmann and Brenda L Gallie.
Initial Posting: July 18, 2000; Last Update: November 21, 2018.
- Rhabdoid Tumor Predisposition Syndrome
Karolina Nemes, Susanne Bens, Franck Bourdeaut, Martin Hasselblatt, Marcel Kool, Pascal Johann, Uwe Kordes, Reinhard Schneppenheim, Reiner Siebert, and Michael C Frühwald.
Initial Posting: December 7, 2017.
- Rhizomelic Chondrodysplasia Punctata Type 1
Nancy E Braverman, Ann B Moser, and Steven J Steinberg.
Initial Posting: November 16, 2001; Last Update: September 13, 2012.
- Riboflavin Transporter Deficiency Neuronopathy
Andreea Manole and Henry Houlden.
Initial Posting: June 11, 2015.
- Roberts Syndrome
Miriam Gordillo, Hugo Vega, and Ethylin Wang Jabs.
Initial Posting: April 18, 2006; Last Update: November 14, 2013.
- Rothmund-Thomson Syndrome
Lisa L Wang and Sharon E Plon.
Initial Posting: October 6, 1999; Last Update: January 3, 2019.
- Rotor Syndrome
Milan Jirsa, AS Knisely, Alfred Schinkel, and Stanislav Kmoch.
Initial Posting: December 13, 2012.
- Rubinstein-Taybi Syndrome
Cathy A Stevens.
Initial Posting: August 30, 2002; Last Update: August 7, 2014.
S
- SALL4-Related Disorders
Jürgen Kohlhase.
Initial Posting: August 16, 2004; Last Update: January 15, 2015.
- SAMD9L-Related Ataxia-Pancytopenia Syndrome
Prasit Phowthongkum, Dong-Hui Chen, Wendy H Raskind, and Thomas Bird.
Initial Posting: June 1, 2017.
- SATB2-Associated Syndrome
Yuri A Zarate, Julie Kaylor, and Jennifer Fish.
Initial Posting: October 12, 2017.
-
SCN1A-Related Seizure Disorders
Ian O Miller and Marcio A Sotero de Menezes.
Initial Posting: November 29, 2007; Last Update: May 15, 2014.
- SCN8A-Related Epilepsy with Encephalopathy
Michael F Hammer, Jacy L Wagnon, Heather C Mefford, and Miriam H Meisler.
Initial Posting: August 25, 2016.
- SCN9A-Related Inherited Erythromelalgia
Fuki M Hisama, Sulayman D Dib-Hajj, and Stephen G Waxman.
Initial Posting: May 6, 2006; Last Update: August 15, 2013.
- SHOX Deficiency Disorders
Gerhard Binder and Gudrun A Rappold.
Initial Posting: December 12, 2005; Last Update: June 28, 2018.
- SLC39A14 Deficiency
Karin Tuschl, Allison Gregory, Esther Meyer, Peter T Clayton, Susan J Hayflick, Philippa B Mills, and Manju A Kurian.
Initial Posting: May 25, 2017.
- SLC6A3-Related Dopamine Transporter Deficiency Syndrome
Manju A Kurian.
Initial Posting: July 27, 2017.
- SOST-Related Sclerosing Bone Dysplasias
Peter H Beighton, Herman Hamersma, and Mary E Brunkow.
Initial Posting: June 4, 2002; Last Revision: January 10, 2013.
- SOX2-Related Eye Disorders
Kathleen A Williamson and David R FitzPatrick.
Initial Posting: February 23, 2006; Last Update: July 31, 2014.
- SPTLC1-Related Hereditary Sensory Neuropathy
Garth A Nicholson.
Initial Posting: September 23, 2002; Last Update: November 21, 2018.
- STXBP1 Encephalopathy with Epilepsy
Yannay Khaikin and Saadet Mercimek-Mahmutoglu.
Initial Posting: December 1, 2016.
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
Ayman W El-Hattab and Fernando Scaglia.
Initial Posting: May 26, 2009; Last Revision: May 18, 2017.
- SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
Ayman W El-Hattab and Fernando Scaglia.
Initial Posting: March 30, 2017.
- SYNE1 Deficiency
Marie Beaudin, Pierre-Luc Gamache, François Gros-Louis, and Nicolas Dupré.
Initial Posting: February 23, 2007; Last Update: December 6, 2018.
- Saethre-Chotzen Syndrome
Emily R Gallagher, Chootima Ratisoontorn, and Michael L Cunningham.
Initial Posting: May 16, 2003; Last Revision: June 14, 2012.
- Salih Myopathy
Virginie Carmignac, Tiina Suominen, Peter Hackman, Bjarne Udd, and Mustafa A Salih.
Initial Posting: January 12, 2012.
- Schimke Immunoosseous Dysplasia
Marie Morimoto, David B Lewis, Thomas Lücke, and Cornelius F Boerkoel.
Initial Posting: October 1, 2002; Last Update: February 11, 2016.
- Schwannomatosis
Radhika Dhamija, Scott Plotkin, Ashok Asthagiri, Ludwine Messiaen, and Dusica Babovic-Vuksanovic.
Initial Posting: March 8, 2018.
- Sepiapterin Reductase Deficiency
Jennifer Friedman.
Initial Posting: July 1, 2015.
- SHORT Syndrome
A Micheil Innes and David A Dyment.
Initial Posting: May 15, 2014.
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
Lynne Wolfe, Reena Jethva, Devin Oglesbee, and Jerry Vockley.
Initial Posting: September 22, 2011; Last Update: August 9, 2018.
- Shprintzen-Goldberg Syndrome
Marie T Greally.
Initial Posting: January 13, 2006; Last Update: June 13, 2013.
- Shwachman-Diamond Syndrome
Adam Nelson and Kasiani Myers.
Initial Posting: July 17, 2008; Last Update: October 18, 2018.
- Sialuria
Jules G Leroy.
Initial Posting: January 14, 2004; Last Update: October 18, 2012.
- Sickle Cell Disease
MA Bender.
Initial Posting: September 15, 2003; Last Update: August 17, 2017.
- Simpson-Golabi-Behmel Syndrome Type 1
Brian J Sajorda, Christina X Gonzalez-Gandolfi, Evan R Hathaway, and Jennifer M Kalish.
Initial Posting: December 19, 2006; Last Update: November 29, 2018.
- Sitosterolemia
Louise S Merkens, Semone B Myrie, Robert D Steiner, and David Mymin.
Initial Posting: April 4, 2013; Last Revision: May 17, 2018.
- Smith-Lemli-Opitz Syndrome
Malgorzata JM Nowaczyk.
Initial Posting: November 13, 1998; Last Update: June 20, 2013.
- Smith-Magenis Syndrome
Ann CM Smith, Kerry E Boyd, Sarah H Elsea, Brenda M Finucane, Barbara Haas-Givler, Andrea Gropman, Gonzalo Laje, Ellen Magenis, and Lorraine Potocki.
Initial Posting: October 22, 2001; Last Update: June 28, 2012.
- Snyder-Robinson Syndrome
Jessica Albert, Charles E Schwartz, Cornelius F Boerkoel, and Roger E Stevenson.
Initial Posting: June 27, 2013.
- Sotos Syndrome
Katrina Tatton-Brown, Trevor RP Cole, and Nazneen Rahman.
Initial Posting: December 17, 2004; Last Update: November 19, 2015.
- Spastic Paraplegia 3A
Peter Hedera.
Initial Posting: September 21, 2010; Last Update: December 11, 2014.
- Spastic Paraplegia 4
Alexandra Durr, Chantal Tallaksen, and Christel Depienne.
Initial Posting: April 17, 2003; Last Update: August 16, 2012.
- Spastic Paraplegia 7
Giorgio Casari and Roberto Marconi.
Initial Posting: August 24, 2006; Last Update: October 25, 2018.
- Spastic Paraplegia 8
Paul N Valdmanis, Inge A Meijer, and Guy A Rouleau.
Initial Posting: August 13, 2008; Last Update: July 25, 2013.
- Spastic Paraplegia 11
Giovanni Stevanin, Alexandra Durr, and Alexis Brice.
Initial Posting: March 27, 2008; Last Update: January 31, 2013.
- Spinal and Bulbar Muscular Atrophy
Albert La Spada.
Initial Posting: February 26, 1999; Last Update: January 26, 2017.
- Spinal Muscular Atrophy
Thomas W Prior and Erika Finanger.
Initial Posting: February 24, 2000; Last Update: December 22, 2016.
- Spinal Muscular Atrophy, X-Linked Infantile
Lisa Baumbach-Reardon, Stephanie J Sacharow, and Mary Ellen Ahearn.
Initial Posting: October 30, 2008; Last Update: September 13, 2012.
- Spinocerebellar Ataxia Type 1
Puneet Opal and Tetsuo Ashizawa.
Initial Posting: October 1, 1998; Last Update: June 22, 2017.
- Spinocerebellar Ataxia Type 2
Stefan M Pulst.
Initial Posting: October 23, 1998; Last Update: November 12, 2015.
- Spinocerebellar Ataxia Type 3
Henry Paulson.
Initial Posting: October 10, 1998; Last Update: September 24, 2015.
- Spinocerebellar Ataxia Type 6
Christopher M Gomez.
Initial Posting: October 23, 1998; Last Update: July 18, 2013.
- Spinocerebellar Ataxia Type 7
Gwenn Garden.
Initial Posting: August 27, 1998; Last Update: December 20, 2012.
- Spinocerebellar Ataxia Type 8
Fatma Ayhan, Yoshio Ikeda, Joline C Dalton, John W Day, and Laura PW Ranum.
Initial Posting: November 27, 2001; Last Update: April 3, 2014.
- Spinocerebellar Ataxia Type 10
Tohru Matsuura and Tetsuo Ashizawa.
Initial Posting: April 23, 2002; Last Update: September 20, 2012.
- Spinocerebellar Ataxia Type 11
Henry Houlden.
Initial Posting: July 22, 2008; Last Update: March 7, 2013.
- Spinocerebellar Ataxia Type 13
Stefan M Pulst.
Initial Posting: November 9, 2006; Last Update: March 1, 2012.
- Spinocerebellar Ataxia Type 14
Dong-Hui Chen, Thomas D Bird, and Wendy H Raskind.
Initial Posting: January 28, 2005; Last Update: April 18, 2013.
- Spinocerebellar Ataxia Type 15
Elsdon Storey.
Initial Posting: May 30, 2006; Last Update: June 12, 2014.
- Spinocerebellar Ataxia Type 17
Yasuko Toyoshima, Osamu Onodera, Mitsunori Yamada, Shoji Tsuji, and Hitoshi Takahashi.
Initial Posting: March 29, 2005; Last Update: May 17, 2012.
- Spinocerebellar Ataxia Type 20
Elsdon Storey.
Initial Posting: February 27, 2007; Last Update: June 7, 2012.
- Spinocerebellar Ataxia Type 28
Alessandro Brussino, Alfredo Brusco, Alexandra Durr, and Cecilia Mancini.
Initial Posting: May 17, 2011; Last Update: March 22, 2018.
- Spinocerebellar Ataxia Type 36
Manuel Arias, Beatriz Quintáns, María García-Murias, and Maria J Sobrido.
Initial Posting: August 7, 2014.
- Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
Hok Khim Fam, Mustafa AM Salih, Hiroshi Takashima, and Cornelius F Boerkoel.
Initial Posting: October 22, 2007; Last Revision: December 20, 2012.
- Spondylocostal Dysostosis, Autosomal Recessive
Peter D Turnpenny, Melissa Sloman, Sally Dunwoodie; ICVS (International Consortium for Vertebral Anomalies and Scoliosis).
Initial Posting: August 25, 2009; Last Update: December 21, 2017.
- Stickler Syndrome
Nathaniel H Robin, Rocio T Moran, and Leena Ala-Kokko.
Initial Posting: June 9, 2000; Last Update: March 16, 2017.
- Succinic Semialdehyde Dehydrogenase Deficiency
Phillip L Pearl, Natrujee Wiwattanadittakul, Jean-Baptiste Roullet, and K Michael Gibson.
Initial Posting: May 5, 2004; Last Update: April 28, 2016.
- Susceptibility to Infection-Induced Acute Encephalopathy 3
Derek Neilson.
Initial Posting: December 4, 2014.
- Systemic Primary Carnitine Deficiency
Ayman W El-Hattab.
Initial Posting: March 15, 2012; Last Update: November 3, 2016.
T
- TANGO2-Related Metabolic Encephalopathy and Arrhythmias
Seema R Lalani, Brett Graham, Lindsay Burrage, Yi-Chen Lai, Fernando Scaglia, Claudia Soler-Alfonso, Christina Miyake, and Yaping Yang.
Initial Posting: January 25, 2018; Last Update: December 20, 2018.
- TARDBP-Related Amyotrophic Lateral Sclerosis
Matthew M Harms, Timothy M Miller, and Robert H Baloh.
Initial Posting: April 23, 2009; Last Update: March 12, 2015.
- TBC1D24-Related Disorders
Bettina E Mucha, Raoul CM Hennekam, Sanjay Sisodiya, and Philippe M Campeau.
Initial Posting: February 26, 2015; Last Update: December 7, 2017.
- TFR2-Related Hereditary Hemochromatosis
Marco De Gobbi and Antonella Roetto.
Initial Posting: August 29, 2005; Last Update: February 15, 2018.
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
Julia Wang, Ayman W El-Hattab, and Lee-Jun C Wong.
Initial Posting: December 6, 2012; Last Update: July 26, 2018.
- TP63-Related Disorders
V Reid Sutton and Hans van Bokhoven.
Initial Posting: June 8, 2010; Last Update: August 6, 2015.
- TRIO-Related Intellectual Disability
Konstantinos Varvagiannis, Lisenka ELM Vissers, Diana Baralle, and Bert BA de Vries.
Initial Posting: August 10, 2017.
- TRPV4-Associated Disorders
Alice Schindler, Charlotte Sumner, and Julie E Hoover-Fong.
Initial Posting: May 15, 2014.
- TSEN54-Related Pontocerebellar Hypoplasia
Yasmin Namavar, Veerle RC Eggens, Peter G Barth, and Frank Baas.
Initial Posting: September 8, 2009; Last Revision: July 14, 2016.
- TUBB4A-Related Leukodystrophy
Norah Nahhas, Alex Conant, Eline Hamilton, Julian Curiel, Cas Simons, Marjo van der Knaap, and Adeline Vanderver.
Initial Posting: November 3, 2016.
- Tetra-Amelia Syndrome
Stephan Niemann.
Initial Posting: August 28, 2007; Last Update: August 2, 2012.
- Thanatophoric Dysplasia
Barbara Karczeski and Garry R Cutting.
Initial Posting: May 21, 2004; Last Update: September 12, 2013.
- Thiamine-Responsive Megaloblastic Anemia Syndrome
Kimihiko Oishi and George A Diaz.
Initial Posting: October 24, 2003; Last Update: May 4, 2017.
- Thrombocytopenia Absent Radius Syndrome
Helga V Toriello.
Initial Posting: December 8, 2009; Last Update: December 8, 2016.
- Timothy Syndrome
Carlo Napolitano, Igor Splawski, Katherine W Timothy, Raffaella Bloise, and Silvia G Priori.
Initial Posting: February 15, 2006; Last Update: July 16, 2015.
- Townes-Brocks Syndrome
Jürgen Kohlhase.
Initial Posting: January 24, 2007; Last Update: January 14, 2016.
- Treacher Collins Syndrome
Sara Huston Katsanis and Ethylin Wang Jabs.
Initial Posting: July 20, 2004; Last Update: September 27, 2018.
- Trichohepatoenteric Syndrome
Alexandre Fabre, Patrice Bourgeois, Charlène Chaix, Karine Bertaux, Olivier Goulet, and Catherine Badens.
Initial Posting: January 11, 2018.
- Trichorhinophalangeal Syndrome
Saskia Maas, Adam Shaw, Hennie Bikker, and Raoul CM Hennekam.
Initial Posting: April 20, 2017.
- Troyer Syndrome
Heema Patel, Gaurav Harlalka, and Andrew Crosby.
Initial Posting: November 16, 2004; Last Update: August 4, 2011.
- Tuberous Sclerosis Complex
Hope Northrup, Mary Kay Koenig, Deborah A Pearson, and Kit Sing Au.
Initial Posting: July 13, 1999; Last Update: July 12, 2018.
- Tubulinopathies Overview
Nadia Bahi-Buisson and Mara Cavallin.
Initial Posting: March 24, 2016.
- Tyrosine Hydroxylase Deficiency
Yoshiaki Furukawa and Stephen Kish.
Initial Posting: February 8, 2008; Last Update: May 11, 2017.
- Tyrosinemia Type I
Lisa Sniderman King, Cristine Trahms, and C Ronald Scott.
Initial Posting: July 24, 2006; Last Update: May 25, 2017.
U
- UNC80 Deficiency
Cornelius Boerkoel and Christèle du Souich.
Initial Posting: September 21, 2017.
- Udd Distal Myopathy
Tiina Suominen, Bjarne Udd, and Peter Hackman.
Initial Posting: February 17, 2005; Last Revision: August 8, 2013.
- Unverricht-Lundborg Disease
Anna-Elina Lehesjoki and Reetta Kälviäinen.
Initial Posting: June 24, 2004; Last Update: November 26, 2014.
- Urea Cycle Disorders Overview
Nicholas Ah Mew, Kara L Simpson, Andrea L Gropman, Brendan C Lanpher, Kimberly A Chapman, and Marshall L Summar.
Initial Posting: April 29, 2003; Last Update: June 22, 2017.
- Urofacial Syndrome
William G Newman and Adrian S Woolf.
Initial Posting: August 22, 2013; Last Update: June 7, 2018.
- Usher Syndrome Type I
Jennifer Lentz and Bronya JB Keats.
Initial Posting: December 10, 1999; Last Update: May 19, 2016.
- Usher Syndrome Type II
Jennifer Lentz and Bronya Keats.
Initial Posting: December 10, 1999; Last Update: July 21, 2016.
V
- VCAN-Related Vitreoretinopathy
Barbara Kloeckener-Gruissem and Christoph Amstutz.
Initial Posting: February 3, 2009; Last Update: January 7, 2016.
- VLDLR-Associated Cerebellar Hypoplasia
Kym M Boycott and Jillian S Parboosingh.
Initial Posting: August 26, 2008; Last Update: August 8, 2013.
- VPS35-Related Parkinson Disease
Angela Deutschländer, Owen A Ross, and Zbigniew K Wszolek.
Initial Posting: August 10, 2017.
- Variegate Porphyria
Ashwani K Singal and Karl E Anderson.
Initial Posting: February 14, 2013.
- Vascular Ehlers-Danlos Syndrome
Melanie G Pepin, Mitzi L Murray, and Peter H Byers.
Initial Posting: September 2, 1999; Last Update: November 19, 2015.
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Nancy D Leslie, C Alexander Valencia, Arnold W Strauss, and Kejian Zhang.
Initial Posting: May 28, 2009; Last Update: January 4, 2018.
- Von Hippel-Lindau Syndrome
Rachel S van Leeuwaarde, Saya Ahmad, Thera P Links, and Rachel H Giles.
Initial Posting: May 17, 2000; Last Update: September 6, 2018.
- von Willebrand Disease
Anne Goodeve and Paula James.
Initial Posting: June 4, 2009; Last Update: October 5, 2017.
W
- WAC-Related Intellectual Disability
Konstantinos Varvagiannis, Bert BA de Vries, and Lisenka ELM Vissers.
Initial Posting: November 30, 2017.
- WAS-Related Disorders
Sharat Chandra, Lucas Bronicki, Chinmayee B Nagaraj, and Kejian Zhang.
Initial Posting: September 30, 2004; Last Update: September 22, 2016.
- WFS1-Related Disorders
Lisbeth Tranebjærg, Timothy Barrett, and Nanna Dahl Rendtorff.
Initial Posting: February 24, 2009; Last Update: December 19, 2013.
- Waardenburg Syndrome Type I
Jeff Mark Milunsky.
Initial Posting: July 30, 2001; Last Revision: May 4, 2017.
- Weill-Marchesani Syndrome
Ekaterini Tsilou and Ian M MacDonald.
Initial Posting: November 1, 2007; Last Update: February 14, 2013.
- Werner Syndrome
Junko Oshima, George M Martin, and Fuki M Hisama.
Initial Posting: December 2, 2002; Last Update: September 29, 2016.
- Williams Syndrome
Colleen A Morris.
Initial Posting: April 9, 1999; Last Update: March 23, 2017.
- Wilms Tumor Predisposition
Jeffrey S Dome and Vicki Huff.
Initial Posting: December 19, 2003; Last Update: October 20, 2016.
- Wilson Disease
Karl Heinz Weiss.
Initial Posting: October 22, 1999; Last Update: July 29, 2016.
- Wolf-Hirschhorn Syndrome
Agatino Battaglia, John C Carey, and Sarah T South.
Initial Posting: April 29, 2002; Last Update: August 20, 2015.
- Woodhouse-Sakati Syndrome
Saeed A Bohlega and Fowzan S Alkuraya.
Initial Posting: August 4, 2016.
X
- X-Linked Acrogigantism
Donato Iacovazzo and Márta Korbonits.
Initial Posting: February 1, 2018.
- X-Linked Adrenoleukodystrophy
Gerald V Raymond, Ann B Moser, and Ali Fatemi.
Initial Posting: March 26, 1999; Last Update: February 15, 2018.
- X-Linked Agammaglobulinemia
CI Edvard Smith and Anna Berglöf.
Initial Posting: April 5, 2001; Last Update: August 4, 2016.
- X-Linked Congenital Stationary Night Blindness
Kym M Boycott, Yves Sauvé, and Ian M MacDonald.
Initial Posting: January 16, 2008; Last Update: April 26, 2012.
- X-Linked Dystonia-Parkinsonism
Virgilio Gerald H Evidente.
Initial Posting: December 13, 2005; Last Update: February 15, 2018.
- X-Linked Hyper IgM Syndrome
Judith Johnson, Alexandra H Filipovich, and Kejian Zhang.
Initial Posting: May 31, 2007; Last Revision: January 24, 2013.
- X-Linked Hypophosphatemia
Mary D Ruppe.
Initial Posting: February 9, 2012; Last Update: April 13, 2017.
- X-Linked Juvenile Retinoschisis
Paul A Sieving, Ian M MacDonald, and Stephanie Chan.
Initial Posting: October 24, 2003; Last Update: August 28, 2014.
- X-Linked Myotubular Myopathy
James J Dowling, Michael W Lawlor, and Soma Das.
Initial Posting: February 25, 2002; Last Update: August 23, 2018.
- X-Linked Opitz G/BBB Syndrome
Germana Meroni.
Initial Posting: December 17, 2004; Last Update: April 5, 2018.
- X-Linked Protoporphyria
Manisha Balwani, Joseph Bloomer, Robert Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
Initial Posting: February 14, 2013.
- X-Linked Severe Combined Immunodeficiency
Eric Allenspach, David J Rawlings, and Andrew M Scharenberg.
Initial Posting: August 26, 2003; Last Update: April 14, 2016.
- X-Linked Sideroblastic Anemia and Ataxia
Soumeya Bekri, Marc D'Hooghe, and Pieter Vermeersch.
Initial Posting: March 1, 2006; Last Update: April 3, 2014.
- X-Linked Spondyloepiphyseal Dysplasia Tarda
George E Tiller and Vickie L Hannig.
Initial Posting: November 1, 2001; Last Update: June 11, 2015.
- Xeroderma Pigmentosum
Kenneth H Kraemer and John J DiGiovanna.
Initial Posting: June 20, 2003; Last Update: September 29, 2016.
- Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
Ayman W El-Hattab, Christian P Schaaf, and Sau Wai Cheung.
Initial Posting: March 10, 2016.
Y
- Y Chromosome Infertility
Sherman J Silber and Christine M Disteche.
Initial Posting: October 31, 2002; Last Update: October 18, 2012.
Z
- Zellweger Spectrum Disorder
Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, and Ann B Moser.
Initial Posting: December 12, 2003; Last Revision: December 21, 2017.
- ZAP70-Related Combined Immunodeficiency
Kelly Walkovich and Mark Vander Lugt.
Initial Posting: October 20, 2009; Last Update: June 8, 2017.
- Illustrated Glossary